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Record Information
Version5.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2022-03-07 02:48:59 UTC
HMDB IDHMDB0000067
Secondary Accession Numbers
  • HMDB0000507
  • HMDB00067
  • HMDB00507
  • HMDB0062453
  • HMDB62453
Metabolite Identification
Common NameCholesterol
DescriptionCholesterol is a sterol (a combination steroid and alcohol) and a lipid found in the cell membranes of all body tissues and transported in the blood plasma of all animals. The name originates from the Greek chole- (bile) and stereos (solid), and the chemical suffix -ol for an alcohol. This is because researchers first identified cholesterol in solid form in gallstones in 1784. In the body, cholesterol can exist in either the free form or as an ester with a single fatty acid (of 10-20 carbons in length) covalently attached to the hydroxyl group at position 3 of the cholesterol ring. Due to the mechanism of synthesis, plasma cholesterol esters tend to contain relatively high proportions of polyunsaturated fatty acids. Most of the cholesterol consumed as a dietary lipid exists as cholesterol esters. Cholesterol esters have a lower solubility in water than cholesterol and are more hydrophobic. They are hydrolyzed by the pancreatic enzyme cholesterol esterase to produce cholesterol and free fatty acids. Cholesterol has vital structural roles in membranes and in lipid metabolism in general. It is a biosynthetic precursor of bile acids, vitamin D, and steroid hormones (glucocorticoids, estrogens, progesterones, androgens and aldosterone). In addition, it contributes to the development and functioning of the central nervous system, and it has major functions in signal transduction and sperm development. Cholesterol is a ubiquitous component of all animal tissues where much of it is located in the membranes, although it is not evenly distributed. The highest proportion of unesterified cholesterol is in the plasma membrane (roughly 30-50% of the lipid in the membrane or 60-80% of the cholesterol in the cell), while mitochondria and the endoplasmic reticulum have very low cholesterol contents. Cholesterol is also enriched in early and recycling endosomes, but not in late endosomes. The brain contains more cholesterol than any other organ where it comprises roughly a quarter of the total free cholesterol in the human body. Of all the organic constituents of blood, only glucose is present in a higher molar concentration than cholesterol. Cholesterol esters appear to be the preferred form for transport in plasma and as a biologically inert storage (de-toxified) form. They do not contribute to membranes but are packed into intracellular lipid particles. Cholesterol molecules (i.e. cholesterol esters) are transported throughout the body via lipoprotein particles. The largest lipoproteins, which primarily transport fats from the intestinal mucosa to the liver, are called chylomicrons. They carry mostly triglyceride fats and cholesterol that are from food, especially internal cholesterol secreted by the liver into the bile. In the liver, chylomicron particles give up triglycerides and some cholesterol. They are then converted into low-density lipoprotein (LDL) particles, which carry triglycerides and cholesterol on to other body cells. In healthy individuals, the LDL particles are large and relatively few in number. In contrast, large numbers of small LDL particles are strongly associated with promoting atheromatous disease within the arteries. (Lack of information on LDL particle number and size is one of the major problems of conventional lipid tests.). In conditions with elevated concentrations of oxidized LDL particles, especially small LDL particles, cholesterol promotes atheroma plaque deposits in the walls of arteries, a condition known as atherosclerosis, which is a major contributor to coronary heart disease and other forms of cardiovascular disease. There is a worldwide trend to believe that lower total cholesterol levels tend to correlate with lower atherosclerosis event rates (though some studies refute this idea). As a result, cholesterol has become a very large focus for the scientific community trying to determine the proper amount of cholesterol needed in a healthy diet. However, the primary association of atherosclerosis with cholesterol has always been specifically with cholesterol transport patterns, not total cholesterol per se. For example, total cholesterol can be low, yet made up primarily of small LDL and small HDL particles and atheroma growth rates are high. In contrast, however, if LDL particle number is low (mostly large particles) and a large percentage of the HDL particles are large (HDL is actively reverse transporting cholesterol), then atheroma growth rates are usually low, even negative, for any given total cholesterol concentration. These effects are further complicated by the relative concentration of asymmetric dimethylarginine (ADMA) in the endothelium since ADMA down-regulates production of nitric oxide, a relaxant of the endothelium. Thus, high levels of ADMA, associated with highly oxidized levels of LDL, pose a heightened risk factor for vascular disease. Chronically high levels of cholesterol are associated with at least five inborn errors of metabolism, including cerebrotendinous xanthomatosis, cholesteryl ester storage disease, congenital lipoid adrenal hyperplasia, hypercholesterolemia, and Zellweger syndrome. In chronically high levels, cholesterol can function as an atherogen (causes atherosclerosis and cardiovascular disease). Specifically, chronically high levels (from diet or from genetic predisposition or from diseases such as hyperlipidemia) of cholesterol and cholesterol esters lead to an excess of low-density lipoprotein (LDL) particles. In healthy individuals, the LDL particles are large and relatively few in number. In contrast, large numbers of small LDL particles are strongly associated with promoting atheromatous disease within the arteries. In conditions with elevated concentrations of oxidized LDL particles, especially small LDL particles, cholesterol promotes atheroma plaque deposits in the walls of arteries, a condition known as atherosclerosis, which is a major contributor to coronary heart disease and other forms of cardiovascular disease. Resistin, a protein secreted by fat tissue, has been shown to increase the production of LDL in human liver cells and also degrades LDL receptors in the liver. As a result, the liver is less able to clear cholesterol from the bloodstream. Resistin accelerates the accumulation of LDL in arteries, increasing the risk of heart disease. Cholesterol is considered to be practically insoluble (in water) and basic.
Structure
Data?1601240101
Synonyms
ValueSource
(3beta,14beta,17alpha)-Cholest-5-en-3-olChEBI
Cholest-5-en-3beta-olChEBI
CholesterinChEBI
(3b,14b,17a)-Cholest-5-en-3-olGenerator
(3Β,14β,17α)-cholest-5-en-3-olGenerator
Cholest-5-en-3b-olGenerator
Cholest-5-en-3β-olGenerator
(3Β)-cholest-5-en-3-olHMDB
(3beta)-Cholest-5-en-3-olHMDB
3Β-hydroxycholest-5-eneHMDB
3beta-Hydroxycholest-5-eneHMDB
5:6-Cholesten-3β-olHMDB
5:6-Cholesten-3beta-olHMDB
(-)-CholesterolHMDB
CholesterineHMDB
Cholesterol base HHMDB
Cholesteryl alcoholHMDB
CholestrinHMDB
CholestrolHMDB
CordulanHMDB
DastarHMDB
DusolineHMDB
DusoranHMDB
DytholHMDB
Fancol CHHMDB
HydrocerinHMDB
KathroHMDB
LanolHMDB
Super hartolanHMDB
TegolanHMDB
CholesterolHMDB
delta5-Cholesten-3beta-olPhytoBank
Δ5-Cholesten-3β-olPhytoBank
Chemical FormulaC27H46O
Average Molecular Weight386.6535
Monoisotopic Molecular Weight386.354866094
IUPAC Name(1S,2R,5S,10S,11S,14R,15R)-2,15-dimethyl-14-[(2R)-6-methylheptan-2-yl]tetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadec-7-en-5-ol
Traditional Name(1S,2R,5S,10S,11S,14R,15R)-2,15-dimethyl-14-[(2R)-6-methylheptan-2-yl]tetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadec-7-en-5-ol
CAS Registry Number57-88-5
SMILES
[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CCCC(C)C
InChI Identifier
InChI=1S/C27H46O/c1-18(2)7-6-8-19(3)23-11-12-24-22-10-9-20-17-21(28)13-15-26(20,4)25(22)14-16-27(23,24)5/h9,18-19,21-25,28H,6-8,10-17H2,1-5H3/t19-,21+,22+,23-,24+,25+,26+,27-/m1/s1
InChI KeyHVYWMOMLDIMFJA-DPAQBDIFSA-N
Chemical Taxonomy
Description Belongs to the class of organic compounds known as cholesterols and derivatives. Cholesterols and derivatives are compounds containing a 3-hydroxylated cholestane core.
KingdomOrganic compounds
Super ClassLipids and lipid-like molecules
ClassSteroids and steroid derivatives
Sub ClassCholestane steroids
Direct ParentCholesterols and derivatives
Alternative Parents
Substituents
  • Cholesterol-skeleton
  • Cholesterol
  • 3-beta-hydroxysteroid
  • 3-beta-hydroxy-delta-5-steroid
  • Hydroxysteroid
  • 3-hydroxysteroid
  • 3-hydroxy-delta-5-steroid
  • Delta-5-steroid
  • Cyclic alcohol
  • Secondary alcohol
  • Organic oxygen compound
  • Hydrocarbon derivative
  • Organooxygen compound
  • Alcohol
  • Aliphatic homopolycyclic compound
Molecular FrameworkAliphatic homopolycyclic compounds
External Descriptors
Ontology
Physiological effectNot Available
Disposition
Biological locationSource
Process
Naturally occurring process
Role
Physical Properties
StateSolid
Experimental Molecular Properties
PropertyValueReference
Melting Point148 °CNot Available
Boiling PointNot AvailableNot Available
Water Solubility9.5e-05 mg/mLNot Available
LogPNot AvailableNot Available
Experimental Chromatographic PropertiesNot Available
Predicted Molecular Properties
PropertyValueSource
Water Solubility2.8e-05 g/LALOGPS
logP7.02ALOGPS
logP7.11ChemAxon
logS-7.1ALOGPS
pKa (Strongest Acidic)18.2ChemAxon
pKa (Strongest Basic)-1.4ChemAxon
Physiological Charge0ChemAxon
Hydrogen Acceptor Count1ChemAxon
Hydrogen Donor Count1ChemAxon
Polar Surface Area20.23 ŲChemAxon
Rotatable Bond Count5ChemAxon
Refractivity120.62 m³·mol⁻¹ChemAxon
Polarizability50.64 ųChemAxon
Number of Rings4ChemAxon
BioavailabilityYesChemAxon
Rule of FiveNoChemAxon
Ghose FilterNoChemAxon
Veber's RuleYesChemAxon
MDDR-like RuleNoChemAxon
Predicted Chromatographic Properties

Predicted Collision Cross Sections

PredictorAdduct TypeCCS Value (Å2)Reference
DarkChem[M+H]+196.26731661259
DarkChem[M-H]-194.29531661259
AllCCS[M+H]+204.23132859911
AllCCS[M-H]-202.19632859911
DeepCCS[M-2H]-237.26930932474
DeepCCS[M+Na]+211.52930932474
DeepCCS[M-2H]-232.95630932474
DeepCCS[M+Na]+208.30930932474
AllCCS[M+H]+204.232859911
AllCCS[M+H-H2O]+202.132859911
AllCCS[M+NH4]+206.232859911
AllCCS[M+Na]+206.832859911
AllCCS[M-H]-202.232859911
AllCCS[M+Na-2H]-204.032859911
AllCCS[M+HCOO]-206.132859911

Predicted Kovats Retention Indices

Underivatized

MetaboliteSMILESKovats RI ValueColumn TypeReference
Cholesterol[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CCCC(C)C2403.9Standard polar33892256
Cholesterol[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CCCC(C)C3145.2Standard non polar33892256
Cholesterol[H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CCCC(C)C3189.6Semi standard non polar33892256

Derivatized

Derivative Name / StructureSMILESKovats RI ValueColumn TypeReference
Cholesterol,1TMS,isomer #1CC(C)CCC[C@@H](C)[C@H]1CC[C@H]2[C@@H]3CC=C4C[C@@H](O[Si](C)(C)C)CC[C@]4(C)[C@H]3CC[C@@]21C3165.2Semi standard non polar33892256
Cholesterol,1TBDMS,isomer #1CC(C)CCC[C@@H](C)[C@H]1CC[C@H]2[C@@H]3CC=C4C[C@@H](O[Si](C)(C)C(C)(C)C)CC[C@]4(C)[C@H]3CC[C@@]21C3385.5Semi standard non polar33892256
Spectra

GC-MS Spectra

Spectrum TypeDescriptionSplash KeyDeposition DateSourceView
Experimental GC-MSGC-MS Spectrum - Cholesterol GC-MS (1 TMS)splash10-004i-3911000000-52f5261007adc218f8f82014-06-16HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - Cholesterol EI-B (Non-derivatized)splash10-052b-2932000000-1667c83d002043a59fff2017-09-12HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - Cholesterol EI-B (Non-derivatized)splash10-000l-9527000000-5529a262047f5369c9c12017-09-12HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - Cholesterol EI-B (Non-derivatized)splash10-0mkr-2954000000-60e7d1f5973e4de33dec2017-09-12HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - Cholesterol CI-B (Non-derivatized)splash10-014i-1009000000-e82b8e23dedb45ce70e62017-09-12HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - Cholesterol GC-EI-TOF (Non-derivatized)splash10-056v-2900000000-04687c9f19ff52ba46542017-09-12HMDB team, MONA, MassBankView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - Cholesterol GC-MS (Non-derivatized) - 70eV, Positivesplash10-05i3-1109000000-8cd386b595bd5151c5a22017-09-20Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - Cholesterol GC-MS (1 TMS) - 70eV, Positivesplash10-0006-3104900000-698223f49da0b0c1cf812017-10-06Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - Cholesterol GC-MS (Non-derivatized) - 70eV, PositiveNot Available2021-10-12Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - Cholesterol GC-MS (Non-derivatized) - 70eV, PositiveNot Available2021-10-12Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - Cholesterol GC-MS (TBDMS_1_1) - 70eV, PositiveNot Available2021-11-05Wishart LabView Spectrum
MSMass Spectrum (Electron Ionization)splash10-0a4l-7922000000-36e8a5e1a77d2e71d1d12014-09-20Not AvailableView Spectrum

MS/MS Spectra

Spectrum TypeDescriptionSplash KeyDeposition DateSourceView
Experimental LC-MS/MSLC-MS/MS Spectrum - Cholesterol n/a 27V, positive-QTOFsplash10-052u-0690000000-36b4aea6637bdf069b5d2020-07-22HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Cholesterol QTOF 5V, positive-QTOFsplash10-014i-3639000000-18a9275beb9bae48c1d72020-07-22HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Cholesterol QTOF 10V, positive-QTOFsplash10-014j-4934000000-f755ada933cfcf53c3032020-07-22HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Cholesterol QTOF 15V, positive-QTOFsplash10-0002-5921000000-e7d43c825b9f6d45e6792020-07-22HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Cholesterol QTOF 20V, positive-QTOFsplash10-0532-5910000000-ce90c49b7429a03a65da2020-07-22HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Cholesterol QTOF 30V, positive-QTOFsplash10-05nb-8900000000-2e8913fec7126b5b2a622020-07-22HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Cholesterol QTOF 40V, positive-QTOFsplash10-0apl-9600000000-3096c7a78c3dd2e6a5382020-07-22HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Cholesterol QTOF 50V, positive-QTOFsplash10-067l-9400000000-1b57543b4cd0a05b9b3f2020-07-22HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Cholesterol QTOF 60V, positive-QTOFsplash10-0aru-9300000000-45a29b76dfefce3f01ca2020-07-22HMDB team, MONAView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Cholesterol 10V, Positive-QTOFsplash10-014r-0009000000-dccd68f70545aeac4fab2017-07-26Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Cholesterol 20V, Positive-QTOFsplash10-05p9-3149000000-7f25daf2b709c7e0d1772017-07-26Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Cholesterol 40V, Positive-QTOFsplash10-0c00-6269000000-5333d0216e01a3e433672017-07-26Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Cholesterol 10V, Negative-QTOFsplash10-000i-0009000000-dc853b29b9e884bbb03b2017-07-26Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Cholesterol 20V, Negative-QTOFsplash10-000i-0009000000-09d9608700564a6fef782017-07-26Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Cholesterol 40V, Negative-QTOFsplash10-0ldi-1009000000-96f6e67651380e1c959e2017-07-26Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Cholesterol 10V, Positive-QTOFsplash10-000i-0009000000-2d9cbc8b5b1fa392fb9b2021-09-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Cholesterol 20V, Positive-QTOFsplash10-0abj-9173000000-9086873e4b65db1ced632021-09-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Cholesterol 40V, Positive-QTOFsplash10-0a4i-8920000000-bd94fa538afb75d047652021-09-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Cholesterol 10V, Negative-QTOFsplash10-000i-0009000000-c037f2d2f217e99b79ac2021-09-25Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Cholesterol 20V, Negative-QTOFsplash10-000i-0009000000-7de5154056e69e7319e12021-09-25Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Cholesterol 40V, Negative-QTOFsplash10-001i-0009000000-96c53273291d4857bde42021-09-25Wishart LabView Spectrum

NMR Spectra

Spectrum TypeDescriptionDeposition DateSourceView
Predicted 1D NMR13C NMR Spectrum (1D, 100 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 100 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 1000 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 1000 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 200 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 200 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 300 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 300 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 400 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 400 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 500 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 500 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 600 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 600 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 700 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 700 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 800 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 800 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 900 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 900 MHz, H2O, predicted)2022-08-23Wishart LabView Spectrum
Biological Properties
Cellular Locations
  • Cytoplasm
  • Extracellular
  • Membrane
  • Mitochondria
  • Lysosome
  • Endoplasmic reticulum
  • Golgi apparatus
Biospecimen Locations
  • Bile
  • Blood
  • Cerebrospinal Fluid (CSF)
  • Feces
  • Saliva
  • Urine
Tissue Locations
  • All Tissues
  • Placenta
  • Prostate
Pathways
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BileDetected and Quantified11500(10000-13000) uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified>6207.108 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified<4400 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified1189.70-3232.87 uMNewborn (0 - <14 days old)Female
Normal
    • CALIPER Paediatri...
details
BloodDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
BloodDetected and Quantified1655.23-6129.52 uMInfant (15 days - <1 year old)Both
Normal
    • CALIPER Paediatri...
details
BloodDetected and Quantified2896.65-5379.49 uMChildren (1 - <19 years old)Both
Normal
    • CALIPER Paediatri...
details
BloodDetected and Quantified1086.24-2819.062 uMNewborn (0 - <14 days old)Male
Normal
    • CALIPER Paediatri...
details
BloodDetected and Quantified5700.0 (4500.0-6700.0) uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified3801.854 (2870.787-4732.920) uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified3620.813-4551.879 uMAdolescent (13-18 years old)Not SpecifiedNormal details
BloodDetected and Quantified<5172.590 uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified<5172.590 uMInfant (0-1 year old)Not SpecifiedNormal details
BloodDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
details
BloodDetected and Quantified3900-6500 uMAdult (>18 years old)Not SpecifiedNormal details
BloodDetected and Quantified4409.633 +/- 788.820 uMAdult (>18 years old)Both
Normal
details
BloodDetected and Quantified3760 +/- 98 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified820 +/- 9 uMAdult (>18 years old)Both
Normal
details
BloodDetected and Quantified4750 (4220-5230) uMAdult (>18 years old)Both
Normal
details
BloodDetected and Quantified1920 +/- 1290 uMChildren (1-13 years old)MaleNormal details
BloodDetected and Quantified3080-5400 uMChildren (1-13 years old)Not SpecifiedNormal details
BloodDetected and Quantified0-5193.280 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified0.0-5200 uMAdult (>18 years old)FemaleNormal details
BloodDetected and Quantified0.0-5200 uMAdult (>18 years old)MaleNormal details
BloodDetected and Quantified4850 +/- 1020 uMAdult (>18 years old)MaleNormal details
BloodDetected and Quantified4960 +/- 1170 uMAdult (>18 years old)FemaleNormal details
BloodDetected and Quantified3879.442 +/- 905.203 uMChildren (1 - 13 years old)FemaleNormal details
BloodDetected and Quantified4008.757 +/- 750.0255 uMChildren (1 - 13 years old)MaleNormal details
BloodDetected and Quantified1230 +/- 250 uMAdult (>18 years old)Not AvailableNormal details
BloodDetected and Quantified430-610 uMAdult (>18 years old)Male
Normal
details
BloodDetected and Quantified390-570 uMAdult (>18 years old)Female
Normal
details
BloodDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
details
BloodDetected and Quantified5000.0 (4500.0-5500.0) uMAdult (>18 years old)Both
Normal
    • Geigy Scientific ...
details
Cerebrospinal Fluid (CSF)Detected and Quantified4.30 (3.90-4.70) uMAdult (>18 years old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified8.32 (7.88-8.76) uMAdult (>18 years old)BothNormal details
FecesDetected but not QuantifiedNot QuantifiedNot SpecifiedNot Specified
Normal
details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
details
FecesDetected but not QuantifiedNot QuantifiedNot SpecifiedNot Specified
Normal
details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
details
FecesDetected but not QuantifiedNot QuantifiedInfant (0-1 year old)Both
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected and Quantified<1.00 uMAdult (>18 years old)BothNormal details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
Abnormal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BileDetected and Quantified13100 (10900-15300) uMAdult (>18 years old)BothGallstone disease details
BileDetected and Quantified13900 (13100-14700) uMAdult (>18 years old)BothCholesterol stones details
BileDetected and Quantified15110 (9860-20360) uMAdult (>18 years old)BothStomach cancer details
BileDetected and Quantified16700 (14100-19300) uMAdult (>18 years old)BothGallstone disease details
BloodDetected and Quantified5896.753 uMAdult (>18 years old)Not SpecifiedCholesteryl ester storage disease details
BloodDetected and Quantified8198.555 uMChildren (1-13 years old)Not SpecifiedCholesteryl ester storage disease details
BloodDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Prostate cancer
details
BloodDetected and Quantified5700.0 (5200.0-6200.0) uMAdult (>18 years old)Both
Hypercholesterolemia
details
BloodDetected and Quantified2689.747-16035.0288 uMChildren (1-13 years old)BothCholesteryl ester storage disease details
BloodDetected and Quantified4060 uMInfant (0-1 year old)Male3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency details
BloodDetected and Quantified<5172.590 uMAdult (>18 years old)BothHyperlipidemia details
BloodDetected and Quantified>5172.590 uMAdult (>18 years old)Both
Cystinosis
details
BloodDetected and Quantified4836.372 +/- 1215.559 uMChildren (1-13 years old)BothCystinosis details
BloodDetected and Quantified7725.263 +/- 1629.366 uMChildren (1-13 years old)BothHypercholesterolemia, familial details
BloodDetected and Quantified3801.854 uMInfant (0-1 year old)FemalePrimary Familial Xanthomatosis With Involvement and Calcification of the Adrenals details
BloodDetected and Quantified4141.0 (3105.0-5176.0) uMAdult (>18 years old)Both
Cholesteryl ester storage disease
    • MetaGene: Metabol...
details
BloodDetected and Quantified9317.8 (7764.8-10870.8) uMChildren (1-13 years old)Both
Cholesteryl ester storage disease
    • MetaGene: Metabol...
details
BloodDetected and Quantified8000.0 (6000.0-10000.0) uMChildren (1-13 years old)Both
Cystinosis
    • MetaGene: Metabol...
details
BloodDetected and Quantified4319.113 uMAdult (>18 years old)Male
27-hydroxylase deficiency
details
BloodDetected and Quantified4629.468 uMAdult (>18 years old)Male
Primary Hypomagnesemia
details
BloodDetected and Quantified3200.0 (2600.0-4100.0) uMAdult (>18 years old)BothAcute myelogenous leukemia (AML) details
BloodDetected and Quantified2198.351-2405.254 uMAdolescent (13-18 years old)FemaleSC4MOL deficiency details
BloodDetected and Quantified2844.924 (2689.747-16035.0288) uMChildren (1-13 years old)Both
Cholesteryl ester storage disease
details
BloodDetected and Quantified4474.29 uMChildren (1-13 years old)MaleChondrodysplasia punctata, X-linked dominant details
BloodDetected and Quantified4189.798 uMChildren (1-13 years old)MaleDesmosterolosis details
BloodDetected and Quantified1293.147 uMNewborn (0-30 days old)MaleDonohue Syndrome details
BloodDetected and Quantified4991.549 uMInfant (0-1 year old)FemaleLeptin Deficiency or Dysfunction details
BloodDetected and Quantified2190 uMAdult (>18 years old)Male
Abetalipoproteinemia
details
BloodDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Schizophrenia
details
BloodDetected and Quantified4250.0585 +/- 658.471 uMAdult (>18 years old)Both
Apolipoprotein C-II deficiency
details
BloodDetected and Quantified4980 +/- 2730 uMChildren (1-13 years old)Male
Duchenne Muscular Dystrophy
details
BloodDetected and Quantified4920 +/- 3640 uMChildren (1-13 years old)Male
Duchenne Muscular Dystrophy
details
BloodDetected and Quantified2190-2940 uMAdult (>18 years old)Both
Lecithin:cholesterol Acyltransferase Deficiency
details
BloodDetected and Quantified4750 (4210-5930) uMAdult (>18 years old)Both
Lipodystrophy
details
BloodDetected and Quantified4580 (3740-6040) uMAdult (>18 years old)Both
Lipodystrophy, Congenital Generalized
details
BloodDetected and Quantified5720 (3830-10030) uMChildren (1-13 years old)Not Specified
Oculocerebrorenal Syndrome of Lowe
details
BloodDetected and Quantified5060 (4390-6260) uMAdult (>18 years old)BothFamilial partial lipodystrophy details
BloodDetected and Quantified4100 uMChildren (1-13 years old)MaleLathosterolosis details
BloodDetected and Quantified4630 (4030-5460) uMAdult (>18 years old)BothPartial lipodystrophy details
BloodDetected and Quantified5715.712 uMAdult (>18 years old)Male
27-hydroxylase deficiency
details
BloodDetected and Quantified400 uMInfant (0-1 year old)Both
Smith-Lemli-Opitz syndrome
details
BloodDetected and Quantified2680 +/- 1850 uMAdult (>18 years old)Not Available
Familial lipoprotein lipase deficiency
details
BloodDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Schizophrenia
details
Cerebrospinal Fluid (CSF)Detected and Quantified1.1 uMInfant (0-1 year old)BothSmith-Lemli-Opitz syndrome details
Cerebrospinal Fluid (CSF)Detected and Quantified10.9 +/- 2.7 uMAdult (>18 years old)BothMultiple Sclerosis details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothInflammatory bowel disease details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Colorectal cancer
details
FecesDetected but not QuantifiedNot QuantifiedNot SpecifiedNot Specified
Cryptosporidium infection
details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Colorectal cancer
details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothClostridium difficile infection details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothColorectal Cancer details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Bladder cancer
details
Associated Disorders and Diseases
Disease References
Gallbladder disease
  1. Miettinen TE, Kesaniemi YA, Gylling H, Jarvinen H, Silvennoinen E, Miettinen TA: Noncholesterol sterols in bile and stones of patients with cholesterol and pigment stones. Hepatology. 1996 Feb;23(2):274-80. [PubMed:8591852 ]
  2. Mizuno S, Tazuma S, Kajiyama G: Stabilization of biliary lipid particles by ursodeoxycholic acid. Prolonged nucleation time in human gallbladder bile. Dig Dis Sci. 1993 Apr;38(4):684-93. [PubMed:8462368 ]
Cholelithiasis
  1. Miettinen TE, Kesaniemi YA, Gylling H, Jarvinen H, Silvennoinen E, Miettinen TA: Noncholesterol sterols in bile and stones of patients with cholesterol and pigment stones. Hepatology. 1996 Feb;23(2):274-80. [PubMed:8591852 ]
Stomach cancer
  1. Higashijima H, Ichimiya H, Nakano T, Yamashita H, Kuroki S, Satoh H, Chijiiwa K, Tanaka M: Deconjugation of bilirubin accelerates coprecipitation of cholesterol, fatty acids, and mucin in human bile--in vitro study. J Gastroenterol. 1996 Dec;31(6):828-35. [PubMed:9027647 ]
Acute myelogenous leukemia
  1. Tatidis L, Vitols S, Gruber A, Paul C, Axelson M: Cholesterol catabolism in patients with acute myelogenous leukemia and hypocholesterolemia: suppressed levels of a circulating marker for bile acid synthesis. Cancer Lett. 2001 Sep 20;170(2):169-75. [PubMed:11463495 ]
Hypercholesterolemia
  1. Authors unspecified: Report of the National Cholesterol Education Program Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. The Expert Panel. Arch Intern Med. 1988 Jan;148(1):36-69. [PubMed:3422148 ]
Cholesteryl ester storage disease
  1. Rassoul F, Richter V, Lohse P, Naumann A, Purschwitz K, Keller E: Long-term administration of the HMG-CoA reductase inhibitor lovastatin in two patients with cholesteryl ester storage disease. Int J Clin Pharmacol Ther. 2001 May;39(5):199-204. [PubMed:11380065 ]
  2. Chatrath H, Keilin S, Attar BM: Cholesterol ester storage disease (CESD) diagnosed in an asymptomatic adult. Dig Dis Sci. 2009 Jan;54(1):168-73. doi: 10.1007/s10620-008-0310-2. Epub 2008 May 14. [PubMed:18478331 ]
  3. Bernstein DL, Hulkova H, Bialer MG, Desnick RJ: Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013 Jun;58(6):1230-43. doi: 10.1016/j.jhep.2013.02.014. Epub 2013 Feb 26. [PubMed:23485521 ]
  4. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Cystinosis
  1. Ueda M, O'Brien K, Rosing DR, Ling A, Kleta R, McAreavey D, Bernardini I, Gahl WA: Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. Clin J Am Soc Nephrol. 2006 May;1(3):555-62. Epub 2006 Feb 8. [PubMed:17699259 ]
  2. Gahl WA, Bernardini I, Dalakas M, Rizzo WB, Harper GS, Hoeg JM, Hurko O, Bernar J: Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome. J Clin Invest. 1988 Feb;81(2):549-60. [PubMed:3276734 ]
  3. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Smith-Lemli-Opitz syndrome
  1. van Rooij A, Nijenhuis AA, Wijburg FA, Schutgens RB: Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 1997 Aug;20(4):578-80. [PubMed:9266395 ]
Prostate cancer
  1. Thysell E, Surowiec I, Hornberg E, Crnalic S, Widmark A, Johansson AI, Stattin P, Bergh A, Moritz T, Antti H, Wikstrom P: Metabolomic characterization of human prostate cancer bone metastases reveals increased levels of cholesterol. PLoS One. 2010 Dec 3;5(12):e14175. doi: 10.1371/journal.pone.0014175. [PubMed:21151972 ]
Schizophrenia
  1. Xuan J, Pan G, Qiu Y, Yang L, Su M, Liu Y, Chen J, Feng G, Fang Y, Jia W, Xing Q, He L: Metabolomic profiling to identify potential serum biomarkers for schizophrenia and risperidone action. J Proteome Res. 2011 Dec 2;10(12):5433-43. doi: 10.1021/pr2006796. Epub 2011 Nov 8. [PubMed:22007635 ]
  2. Al Awam K, Haussleiter IS, Dudley E, Donev R, Brune M, Juckel G, Thome J: Multiplatform metabolome and proteome profiling identifies serum metabolite and protein signatures as prospective biomarkers for schizophrenia. J Neural Transm (Vienna). 2015 Aug;122 Suppl 1:S111-22. doi: 10.1007/s00702-014-1224-0. Epub 2014 May 1. [PubMed:24789758 ]
Primary hypomagnesemia
  1. Jin-no Y, Kamiya Y, Okada M, Hirako M, Takada N, Kawaguchi M: Primary hypomagnesemia caused by isolated magnesium malabsorption: atypical case in adult. Intern Med. 1999 Mar;38(3):261-5. [PubMed:10337938 ]
Hyperlipoproteinemia
  1. Nelson RH: Hyperlipidemia as a risk factor for cardiovascular disease. Prim Care. 2013 Mar;40(1):195-211. doi: 10.1016/j.pop.2012.11.003. Epub 2012 Dec 4. [PubMed:23402469 ]
  2. Cantin B, Boudriau S, Bertrand M, Brun LD, Gagne C, Rogers PA, Ven Murthy MR, Lupien PJ, Julien P: Hemolysis in primary lipoprotein lipase deficiency. Metabolism. 1995 May;44(5):652-8. [PubMed:7752915 ]
Abetalipoproteinemia
  1. Lazaro RP, Dentinger MP, Rodichok LD, Barron KD, Satya-Murti S: Muscle pathology in Bassen-Kornzweig syndrome and vitamin E deficiency. Am J Clin Pathol. 1986 Sep;86(3):378-87. [PubMed:2944375 ]
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
  1. Breckenridge WC, Alaupovic P, Cox DW, Little JA: Apolipoprotein and lipoprotein concentrations in familial apolipoprotein C-II deficiency. Atherosclerosis. 1982 Aug;44(2):223-35. [PubMed:7138621 ]
Cerebrotendinous xanthomatosis
  1. Siman-Tov T, Meiner V, Gadoth N: Could steroids mask the diagnosis of cerebrotendinous xanthomatosis? J Neurol Sci. 2006 Apr 15;243(1-2):83-6. Epub 2006 Jan 30. [PubMed:16445943 ]
  2. Agrawal NK, Garg S: Cerebrotendinous xanthomatosis: a rare disorder with a rare presentation. BMJ Case Rep. 2012 Sep 21;2012. pii: bcr-2012-006202. doi: 10.1136/bcr-2012-006202. [PubMed:23001091 ]
3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
  1. Conboy E, Vairo F, Schultz M, Agre K, Ridsdale R, Deyle D, Oglesbee D, Gavrilov D, Klee EW, Lanpher B: Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features. JIMD Rep. 2017 Oct 14. doi: 10.1007/8904_2017_59. [PubMed:29030856 ]
Hypercholesterolemia, familial
  1. Kwiterovich PO Jr, Fredrickson DS, Levy RI: Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood. J Clin Invest. 1974 May;53(5):1237-49. doi: 10.1172/JCI107670. [PubMed:4363406 ]
SC4MOL deficiency
  1. He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J: Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. J Clin Invest. 2011 Mar;121(3):976-84. doi: 10.1172/JCI42650. [PubMed:21285510 ]
Chondrodysplasia punctata, X-linked dominant
  1. Aughton DJ, Kelley RI, Metzenberg A, Pureza V, Pauli RM: X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. Am J Med Genet A. 2003 Jan 30;116A(3):255-60. doi: 10.1002/ajmg.a.10852. [PubMed:12503102 ]
Desmosterolosis
  1. Andersson HC, Kratz L, Kelley R: Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. Am J Med Genet. 2002 Dec 15;113(4):315-9. doi: 10.1002/ajmg.b.10873. [PubMed:12457401 ]
Donohue Syndrome
  1. Nijim Y, Awni Y, Adawi A, Bowirrat A: Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating. Medicine (Baltimore). 2016 Feb;95(6):e2710. doi: 10.1097/MD.0000000000002710. [PubMed:26871809 ]
Leptin Deficiency or Dysfunction
  1. Farooqi IS, Jebb SA, Langmack G, Lawrence E, Cheetham CH, Prentice AM, Hughes IA, McCamish MA, O'Rahilly S: Effects of recombinant leptin therapy in a child with congenital leptin deficiency. N Engl J Med. 1999 Sep 16;341(12):879-84. doi: 10.1056/NEJM199909163411204. [PubMed:10486419 ]
Duchenne Muscular Dystrophy
  1. Srivastava NK, Pradhan S, Mittal B, Gowda GA: High resolution NMR based analysis of serum lipids in Duchenne muscular dystrophy patients and its possible diagnostic significance. NMR Biomed. 2010 Jan;23(1):13-22. doi: 10.1002/nbm.1419. [PubMed:19787747 ]
Lecithin:cholesterol Acyltransferase Deficiency
  1. Idzior-Walus B, Sieradzki J, Kostner G, Malecki MT, Klupa T, Wesolowska T, Rostworowski W, Hartwich J, Walus M, Kiec AD, Naruszewicz M: Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family. Atherosclerosis. 2006 Apr;185(2):413-20. Epub 2005 Jul 26. [PubMed:16051254 ]
Lipodystrophy
  1. Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali GF, Bilen H, Nur B, Demir L, Onay H, Akinci B: Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1. [PubMed:28754454 ]
Lipodystrophy, Congenital Generalized
  1. Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali GF, Bilen H, Nur B, Demir L, Onay H, Akinci B: Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1. [PubMed:28754454 ]
Oculocerebrorenal syndrome
  1. Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA: Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. N Engl J Med. 1991 May 9;324(19):1318-25. doi: 10.1056/NEJM199105093241904. [PubMed:2017228 ]
Familial partial lipodystrophy
  1. Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali GF, Bilen H, Nur B, Demir L, Onay H, Akinci B: Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1. [PubMed:28754454 ]
Lathosterolosis
  1. Ho AC, Fung CW, Siu TS, Ma OC, Lam CW, Tam S, Wong VC: Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. JIMD Rep. 2014;12:129-34. doi: 10.1007/8904_2013_255. Epub 2013 Oct 20. [PubMed:24142275 ]
Partial lipodystrophy
  1. Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali GF, Bilen H, Nur B, Demir L, Onay H, Akinci B: Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study. Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1. [PubMed:28754454 ]
Multiple sclerosis
  1. Leoni V, Lutjohann D, Masterman T: Levels of 7-oxocholesterol in cerebrospinal fluid are more than one thousand times lower than reported in multiple sclerosis. J Lipid Res. 2005 Feb;46(2):191-5. Epub 2004 Dec 1. [PubMed:15576852 ]
Inflammatory bowel disease
  1. Lee T, Clavel T, Smirnov K, Schmidt A, Lagkouvardos I, Walker A, Lucio M, Michalke B, Schmitt-Kopplin P, Fedorak R, Haller D: Oral versus intravenous iron replacement therapy distinctly alters the gut microbiota and metabolome in patients with IBD. Gut. 2017 May;66(5):863-871. doi: 10.1136/gutjnl-2015-309940. Epub 2016 Feb 4. [PubMed:26848182 ]
Colorectal cancer
  1. Brown DG, Rao S, Weir TL, O'Malia J, Bazan M, Brown RJ, Ryan EP: Metabolomics and metabolic pathway networks from human colorectal cancers, adjacent mucosa, and stool. Cancer Metab. 2016 Jun 6;4:11. doi: 10.1186/s40170-016-0151-y. eCollection 2016. [PubMed:27275383 ]
  2. Sinha R, Ahn J, Sampson JN, Shi J, Yu G, Xiong X, Hayes RB, Goedert JJ: Fecal Microbiota, Fecal Metabolome, and Colorectal Cancer Interrelations. PLoS One. 2016 Mar 25;11(3):e0152126. doi: 10.1371/journal.pone.0152126. eCollection 2016. [PubMed:27015276 ]
  3. Goedert JJ, Sampson JN, Moore SC, Xiao Q, Xiong X, Hayes RB, Ahn J, Shi J, Sinha R: Fecal metabolomics: assay performance and association with colorectal cancer. Carcinogenesis. 2014 Sep;35(9):2089-96. doi: 10.1093/carcin/bgu131. Epub 2014 Jul 18. [PubMed:25037050 ]
Associated OMIM IDs
  • 600803 (Cholelithiasis)
  • 137215 (Stomach cancer)
  • 602439 (Acute myelogenous leukemia)
  • 278000 (Cholesteryl ester storage disease)
  • 219750 (Cystinosis)
  • 270400 (Smith-Lemli-Opitz syndrome)
  • 176807 (Prostate cancer)
  • 181500 (Schizophrenia)
  • 248250 (Primary hypomagnesemia)
  • 238600 (Hyperlipoproteinemia)
  • 200100 (Abetalipoproteinemia)
  • 201750 (Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis)
  • 213700 (Cerebrotendinous xanthomatosis)
  • 605911 (3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency)
  • 143890 (Hypercholesterolemia, familial)
  • 616834 (SC4MOL deficiency)
  • 302960 (Chondrodysplasia punctata, X-linked dominant)
  • 602398 (Desmosterolosis)
  • 246200 (Donohue Syndrome)
  • 614962 (Leptin Deficiency or Dysfunction)
  • 310200 (Duchenne Muscular Dystrophy)
  • 245900 (Lecithin:cholesterol Acyltransferase Deficiency)
  • 608594 (Lipodystrophy, Congenital Generalized)
  • 309000 (Oculocerebrorenal syndrome)
  • 608600 (Familial partial lipodystrophy)
  • 607330 (Lathosterolosis)
  • 126200 (Multiple sclerosis)
  • 114500 (Colorectal cancer)
DrugBank IDDB04540
Phenol Explorer Compound IDNot Available
FooDB IDFDB013269
KNApSAcK IDC00003648
Chemspider IDNot Available
KEGG Compound IDC00187
BioCyc IDCHOLESTEROL
BiGG IDNot Available
Wikipedia LinkCholesterol
METLIN IDNot Available
PubChem Compound5997
PDB IDNot Available
ChEBI ID16113
Food Biomarker OntologyNot Available
VMH IDCHSTEROL
MarkerDB IDMDB00000034
Good Scents IDNot Available
References
Synthesis ReferenceZhu, Yongming; Qin, Liena; Liu, Rui. Simple method for synthesis cholesterol from Diosgenin. Faming Zhuanli Shenqing Gongkai Shuomingshu (2006), 9 pp.
Material Safety Data Sheet (MSDS)Download (PDF)
General References
  1. Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. doi: 10.1038/nature07762. [PubMed:19212411 ]
  2. van Rooij A, Nijenhuis AA, Wijburg FA, Schutgens RB: Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 1997 Aug;20(4):578-80. [PubMed:9266395 ]
  3. Bjorkhem I, Heverin M, Leoni V, Meaney S, Diczfalusy U: Oxysterols and Alzheimer's disease. Acta Neurol Scand Suppl. 2006;185:43-9. [PubMed:16866910 ]
  4. Ellis D, Lloyd C, Becker DJ, Forrest KY, Orchard TJ: The changing course of diabetic nephropathy: low-density lipoprotein cholesterol and blood pressure correlate with regression of proteinuria. Am J Kidney Dis. 1996 Jun;27(6):809-18. [PubMed:8651245 ]
  5. Gil'miiarova FN, Pervova IuV, Radomskaia VM, Gergel' NI, Tarasova SV: [Levels of unified metabolites and thyroid hormones in blood and oral fluid of children with minimal brain dysfunction]. Biomed Khim. 2004 Mar-Apr;50(2):204-10. [PubMed:15179829 ]
  6. Thelen KM, Falkai P, Bayer TA, Lutjohann D: Cholesterol synthesis rate in human hippocampus declines with aging. Neurosci Lett. 2006 Jul 31;403(1-2):15-9. Epub 2006 May 15. [PubMed:16701946 ]
  7. Schillaci G, Pirro M, Ronti T, Gemelli F, Pucci G, Innocente S, Porcellati C, Mannarino E: Prognostic impact of prolonged ventricular repolarization in hypertension. Arch Intern Med. 2006 Apr 24;166(8):909-13. [PubMed:16636218 ]
  8. Higashijima H, Ichimiya H, Nakano T, Yamashita H, Kuroki S, Satoh H, Chijiiwa K, Tanaka M: Deconjugation of bilirubin accelerates coprecipitation of cholesterol, fatty acids, and mucin in human bile--in vitro study. J Gastroenterol. 1996 Dec;31(6):828-35. [PubMed:9027647 ]
  9. Proksch GJ, Bonderman DP: Use of a cholesterol-rich bovine lipoprotein to enhance cholesterol concentrations in the preparation of serum control materials. Clin Chem. 1976 Aug;22(8):1302-5. [PubMed:985740 ]
  10. Sanchez E, Fernandez-D'Pool J: [Liver function in patients exposed to a toluene in a hydrocarbon processing plant]. Invest Clin. 1996 Dec;37(4):255-70. [PubMed:9004852 ]
  11. Mizuno S, Tazuma S, Kajiyama G: Stabilization of biliary lipid particles by ursodeoxycholic acid. Prolonged nucleation time in human gallbladder bile. Dig Dis Sci. 1993 Apr;38(4):684-93. [PubMed:8462368 ]
  12. Bookman ID, Pham J, Guindi M, Heathcote EJ: Distinguishing nonalcoholic steatohepatitis from fatty liver: serum-free fatty acids, insulin resistance, and serum lipoproteins. Liver Int. 2006 Jun;26(5):566-71. [PubMed:16762001 ]
  13. Nigg C, Gutzwiller F: [Cholesterol: blood level and control by Swiss physicians]. Schweiz Med Wochenschr. 1995 Feb 25;125(8):355-60. [PubMed:7709184 ]
  14. Winocour PH, Durrington PN, Bhatnagar D, Ishola M, Mackness M, Arrol S: Influence of early diabetic nephropathy on very low density lipoprotein (VLDL), intermediate density lipoprotein (IDL), and low density lipoprotein (LDL) composition. Atherosclerosis. 1991 Jul;89(1):49-57. [PubMed:1772471 ]
  15. Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L: Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med. 1986 Jun 19;314(25):1610-4. [PubMed:3012338 ]
  16. Markuszewski L, Rosiak M, Golanski J, Rysz J, Spychalska M, Watala C: Reduced blood platelet sensitivity to aspirin in coronary artery disease: are dyslipidaemia and inflammatory states possible factors predisposing to sub-optimal platelet response to aspirin? Basic Clin Pharmacol Toxicol. 2006 May;98(5):503-9. [PubMed:16635110 ]
  17. Miettinen TE, Kesaniemi YA, Gylling H, Jarvinen H, Silvennoinen E, Miettinen TA: Noncholesterol sterols in bile and stones of patients with cholesterol and pigment stones. Hepatology. 1996 Feb;23(2):274-80. [PubMed:8591852 ]
  18. Leoni V, Lutjohann D, Masterman T: Levels of 7-oxocholesterol in cerebrospinal fluid are more than one thousand times lower than reported in multiple sclerosis. J Lipid Res. 2005 Feb;46(2):191-5. Epub 2004 Dec 1. [PubMed:15576852 ]
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Only showing the first 10 proteins. There are 19 proteins in total.

Enzymes

General function:
Involved in phosphatidylcholine-sterol O-acyltransferase activity
Specific function:
Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines. Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteins secreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and the cholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required for remodeling high-density lipoprotein particles into their spherical forms.
Gene Name:
LCAT
Uniprot ID:
P04180
Molecular weight:
49577.545
General function:
Involved in lipid metabolic process
Specific function:
Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles. Important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation.
Gene Name:
LIPA
Uniprot ID:
P38571
Molecular weight:
45418.71
Reactions
Cholesterol ester + Water → Cholesterol + Fatty aciddetails
General function:
Lipid transport and metabolism
Specific function:
Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides.
Gene Name:
CEL
Uniprot ID:
P19835
Molecular weight:
79666.385
Reactions
Cholesterol ester + Water → Cholesterol + Fatty aciddetails
General function:
Involved in sulfotransferase activity
Specific function:
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates hydroxysteroids like DHEA. Isoform 1 preferentially sulfonates cholesterol, and isoform 2 avidly sulfonates pregnenolone but not cholesterol.
Gene Name:
SULT2B1
Uniprot ID:
O00204
Molecular weight:
39598.595
Reactions
Cholesterol + Phosphoadenosine phosphosulfate → Cholesterol sulfate + Adenosine 3',5'-diphosphatedetails
General function:
Involved in catalytic activity
Specific function:
Conversion of sulfated steroid precursors to estrogens during pregnancy.
Gene Name:
STS
Uniprot ID:
P08842
Molecular weight:
65491.72
Reactions
Cholesterol + Oat gum → Cholesterol sulfate + Waterdetails
General function:
Involved in acyl-CoA binding
Specific function:
Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase. May provide cholesteryl esters for lipoprotein secretion from hepatocytes and intestinal mucosa.
Gene Name:
SOAT2
Uniprot ID:
O75908
Molecular weight:
59895.735
Reactions
Acyl-CoA + Cholesterol → Coenzyme A + cholesterol esterdetails
General function:
Involved in monooxygenase activity
Specific function:
Catalyzes a rate-limiting step in cholesterol catabolism and bile acid biosynthesis by introducing a hydrophilic moiety at position 7 of cholesterol. Important for cholesterol homeostasis.
Gene Name:
CYP7A1
Uniprot ID:
P22680
Molecular weight:
57660.155
Reactions
Cholesterol + NADPH + Oxygen → 7alpha-Hydroxycholesterol + NADP + Waterdetails
Cholesterol + Oxygen + NADPH + Hydrogen Ion → 7alpha-Hydroxycholesterol + NADP + Waterdetails
General function:
Involved in acyl-CoA binding
Specific function:
Catalyzes the formation of fatty acid-cholesterol esters. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase.
Gene Name:
SOAT1
Uniprot ID:
P35610
Molecular weight:
58130.665
Reactions
Acyl-CoA + Cholesterol → Coenzyme A + cholesterol esterdetails
General function:
Involved in 7-dehydrocholesterol reductase activity
Specific function:
Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).
Gene Name:
DHCR7
Uniprot ID:
Q9UBM7
Molecular weight:
54488.98
Reactions
Cholesterol + NADP → 7-Dehydrocholesterol + NADPHdetails
Cholesterol + NAD → 7-Dehydrocholesterol + NADH + Hydrogen Iondetails
Cholesterol + NADP → 7-Dehydrocholesterol + NADPH + Hydrogen Iondetails
General function:
Involved in monooxygenase activity
Specific function:
Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.
Gene Name:
CYP11A1
Uniprot ID:
P05108
Molecular weight:
60101.87
Reactions
Cholesterol + reduced adrenal ferredoxin + Oxygen → Pregnenolone + 4-Methylpentanal + oxidized adrenal ferredoxin + Waterdetails
Cholesterol + Oxygen + Hydrogen Ion + Reduced adrenal ferredoxin → 20alpha-Hydroxycholesterol + Water + Oxidized adrenal ferredoxindetails
Cholesterol + Oxygen + Reduced adrenal ferredoxin + Hydrogen Ion → 22b-Hydroxycholesterol + Water + Oxidized adrenal ferredoxindetails

Transporters

General function:
Involved in ATP binding
Specific function:
Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells
Gene Name:
ABCB1
Uniprot ID:
P08183
Molecular weight:
141477.3
References
  1. Wang E, Casciano CN, Clement RP, Johnson WW: Cholesterol interaction with the daunorubicin binding site of P-glycoprotein. Biochem Biophys Res Commun. 2000 Oct 5;276(3):909-16. [PubMed:11027568 ]
General function:
Involved in ATP binding
Specific function:
Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. May be involved in brain-to-blood efflux. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. When overexpressed, the transfected cells become resistant to mitoxantrone, daunorubicin and doxorubicin, display diminished intracellular accumulation of daunorubicin, and manifest an ATP- dependent increase in the efflux of rhodamine 123
Gene Name:
ABCG2
Uniprot ID:
Q9UNQ0
Molecular weight:
72313.5
References
  1. Janvilisri T, Venter H, Shahi S, Reuter G, Balakrishnan L, van Veen HW: Sterol transport by the human breast cancer resistance protein (ABCG2) expressed in Lactococcus lactis. J Biol Chem. 2003 Jun 6;278(23):20645-51. Epub 2003 Mar 28. [PubMed:12668685 ]

Only showing the first 10 proteins. There are 19 proteins in total.