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Record Information
Version4.0
StatusDetected and Quantified
Creation Date2006-05-22 15:12:05 UTC
Update Date2017-12-07 01:49:29 UTC
HMDB IDHMDB0002719
Secondary Accession Numbers
  • HMDB02719
Metabolite Identification
Common NameDesmosterol
DescriptionDesmosterol is an intermediate in the synthesis of cholesterol. Desmosterolosis is a rare autosomal recessive inborn errors of cholesterol synthesis that is caused by defective activity of desmosterol reductase which results in an accumulation of demosterol (DHCR24, EC 1.3.1.72), combines a severe osteosclerotic skeletal dysplasia and includes 2-3 toe syndactyly with Smith-Lemli-Opitz syndrome (SLOS; the biochemical block in SLOS results in decreased cholesterol levels and increased 7-dehydrocholesterol levels). Desmosterolosis is caused by mutation of the 24-dehydrocholesterol reductase gene (DHCR24). Many of the malformations in SLOS and desmosterolosis are consistent with impaired hedgehog function. The hedgehog proteins include Sonic hedgehog (SHH), which plays a major role in midline patterning and limb development. Desmosterolosis, caused by defective activity of desmosterol reductase, combines a severe osteosclerotic skeletal dysplasia. 7-dehydrocholesterol reductase (DHCR7, EC 1.3.1.21) reduces the C7-C8 double bond in the sterol B ring to form cholesterol or desmosterol depending upon the precursor. Desmosterol can be converted to cholesterol by DHCR24. Therefore, SLOS and Desmosterolosis patients invariably have elevated levels of cholesterol precursor's 7-dehydrocholesterol (and its spontaneous isomer 8-dehydrocholesterol) and absent desmosterol. (PMID: 14631207 , 16207203 ).
Structure
Thumb
Synonyms
ValueSource
24-DehydrocholesterolChEBI
3beta-Cholesta-5,24-dien-3-olChEBI
Cholesta-5,24-dien-3beta-olChEBI
3b-Cholesta-5,24-dien-3-olGenerator
3β-cholesta-5,24-dien-3-olGenerator
Cholesta-5,24-dien-3b-olGenerator
Cholesta-5,24-dien-3β-olGenerator
Cholest-5,24-dien-3beta-olHMDB
Cholesta-5,24-dien-3-olHMDB
24 DehydrocholesterolMeSH
DemosterolMeSH
Chemical FormulaC27H44O
Average Molecular Weight384.6377
Monoisotopic Molecular Weight384.33921603
IUPAC Name(1S,2R,5S,10S,11S,14R,15R)-2,15-dimethyl-14-[(2R)-6-methylhept-5-en-2-yl]tetracyclo[8.7.0.0²,⁷.0¹¹,¹⁵]heptadec-7-en-5-ol
Traditional Namedesmosterol
CAS Registry Number313-04-2
SMILES
[H][C@@]12CC[C@H]([C@H](C)CCC=C(C)C)[C@@]1(C)CC[C@@]1([H])[C@@]2([H])CC=C2C[C@@H](O)CC[C@]12C
InChI Identifier
InChI=1S/C27H44O/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/h7,9,19,21-25,28H,6,8,10-17H2,1-5H3/t19-,21+,22+,23-,24+,25+,26+,27-/m1/s1
InChI KeyAVSXSVCZWQODGV-DPAQBDIFSA-N
Chemical Taxonomy
DescriptionThis compound belongs to the class of organic compounds known as cholesterols and derivatives. These 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 effect

Health effect:

  Health condition:

Disposition

Biological Location:

  Subcellular:

  Biofluid and excreta:

  Organ and components:

  Tissue and substructures:

  Cell and elements:

Source:

  Biological:

    Animal:

Route of exposure:

  Enteral:

Process

Naturally occurring process:

  Biological process:

    Biochemical pathway:

    Cellular process:

    Multicellular process:

Role

Indirect biological role:

Industrial application:

Biological role:

  Molecular messenger:

Physical Properties
StateSolid
Experimental Properties
PropertyValueReference
Melting Point121.5 °CNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Properties
PropertyValueSource
Water Solubility0.00011 g/LALOGPS
logP6.62ALOGPS
logP6.71ChemAxon
logS-6.5ALOGPS
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 Count4ChemAxon
Refractivity121.47 m³·mol⁻¹ChemAxon
Polarizability49.6 ųChemAxon
Number of Rings4ChemAxon
Bioavailability1ChemAxon
Rule of FiveYesChemAxon
Ghose FilterYesChemAxon
Veber's RuleYesChemAxon
MDDR-like RuleYesChemAxon
Spectra
Spectra
Spectrum TypeDescriptionSplash Key
GC-MSGC-MS Spectrum - EI-B (Non-derivatized)splash10-00xr-6973000000-9b8478114c7fec1504f2View in MoNA
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positivesplash10-0axr-1109000000-c96b90d5bc5f0ee8db10View in MoNA
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (1 TMS) - 70eV, Positivesplash10-002f-3105900000-043e100bd5bd92eb1582View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Positivesplash10-014r-0019000000-9cec9aa1e8ad662bef64View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Positivesplash10-014i-2149000000-6218d03e9c19a9f2887fView in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Positivesplash10-02ta-4259000000-713a8956eb12b8b2003dView in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Negativesplash10-001i-0009000000-387b878bf983d0b8ac76View in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Negativesplash10-001i-0009000000-2d0cbb4e60d96f291bceView in MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Negativesplash10-0gb9-1019000000-37313ec6fa045ceba894View in MoNA
MSMass Spectrum (Electron Ionization)splash10-0avl-7941000000-99b5e69bc97a4056fa8cView in MoNA
Biological Properties
Cellular Locations
  • Extracellular
  • Membrane (predicted from logP)
  • Endoplasmic reticulum
Biofluid Locations
  • Blood
  • Semen
Tissue Location
  • Brain
  • Kidney
Pathways
NameSMPDB/PathwhizKEGG
Alendronate pathwayPw000137Pw000137 greyscalePw000137 simpleNot Available
Atorvastatin PathwayPw000275Pw000275 greyscalePw000275 simpleNot Available
CHILD SyndromePw000096Pw000096 greyscalePw000096 simpleNot Available
Cerivastatin PathwayPw000271Pw000271 greyscalePw000271 simpleNot Available
Cholesteryl ester storage diseasePw000484Pw000484 greyscalePw000484 simpleNot Available
Normal Concentrations
BiofluidStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified1.81 +/- 0.067 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified0.79 +/- 0.017 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified2.9 +/- 0.2 uMAdult (>18 years old)Not SpecifiedNormal details
BloodDetected and Quantified2.37 +/- 1.04 uMAdult (>18 years old)Not SpecifiedNormal details
SemenDetected and Quantified180 +/- 20 uMAdult (>18 years old)MaleNormal details
Abnormal Concentrations
BiofluidStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified2.9 +/- 0.4 uMAdult (>18 years old)Not SpecifiedPrimary biliary cirrhosis details
Associated Disorders and Diseases
Disease References
Primary biliary cirrhosis
  1. Nikkila K, Hockerstedt K, Miettinen TA: High cholestanol and low campesterol-to-sitosterol ratio in serum of patients with primary biliary cirrhosis before liver transplantation. Hepatology. 1991 Apr;13(4):663-9. [PubMed:2010161 ]
Associated OMIM IDs
DrugBank IDNot Available
DrugBank Metabolite IDNot Available
Phenol Explorer Compound IDNot Available
Phenol Explorer Metabolite IDNot Available
FoodDB IDFDB005374
KNApSAcK IDC00023743
Chemspider ID388662
KEGG Compound IDC01802
BioCyc IDCPD-4141
BiGG ID38445
Wikipedia LinkNot Available
METLIN ID423
PubChem Compound439577
PDB IDNot Available
ChEBI ID17737
References
Synthesis ReferenceKircher, Henry W.; Rosenstein, Fumiko U. Preparation of desmosterol from (20S,22R,S)-3b-acetoxychola-5,23-dien-22-ol. Journal of Organic Chemistry (1987), 52(12), 2586-8.
Material Safety Data Sheet (MSDS)Download (PDF)
General References
  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. Phillips KM, Ruggio DM, Bailey JA: Precise quantitative determination of phytosterols, stanols, and cholesterol metabolites in human serum by capillary gas-liquid chromatography. J Chromatogr B Biomed Sci Appl. 1999 Sep 10;732(1):17-29. [PubMed:10517218 ]
  3. Siirtola A, Ketomaki A, Miettinen TA, Gylling H, Lehtimaki T, Holmberg C, Salo MK, Antikainen M: Cholesterol absorption and synthesis in pediatric kidney, liver, and heart transplant recipients. Transplantation. 2006 Feb 15;81(3):327-34. [PubMed:16477216 ]
  4. Miettinen TA, Kesaniemi YA, Jarvinen H, Hastbacka J: Cholesterol precursor sterols, plant sterols, and cholestanol in human bile and gallstones. Gastroenterology. 1986 Apr;90(4):858-64. [PubMed:3081398 ]
  5. Rosenfeld RS, Bradlow HL, Levin J, Zumoff B: Preparation of [24,25-3H] cholesterol. Oxidation in man as a measure of bile acid formation. J Lipid Res. 1978 Sep;19(7):850-5. [PubMed:712244 ]
  6. Dennick RG, Dean PD, Abramovich DA: Desmosterol levels in human foetal brain--a reassessment. J Neurochem. 1973 Apr;20(4):1293-4. [PubMed:4697890 ]
  7. Nordby G, Norum KR: Substrate specificity of lecithin:cholesterol acyltransferase. Esterification of desmosterol, b-sitosterol, and cholecalciferol in human plasma. Scand J Clin Lab Invest. 1975 Nov;35(7):677-82. [PubMed:174187 ]
  8. Beasley CL, Honer WG, Bergmann K, Falkai P, Lutjohann D, Bayer TA: Reductions in cholesterol and synaptic markers in association cortex in mood disorders. Bipolar Disord. 2005 Oct;7(5):449-55. [PubMed:16176438 ]
  9. Paoletti P, Pezzotta S, Racca AR, Fumagalli R: Chemotherapy of human nervous system tumors: influence on cerebrospinal fluid sterols. Natl Cancer Inst Monogr. 1977 Dec;46:125-6. [PubMed:613223 ]
  10. Volpe JJ, Hennessy SW: Cholesterol biosynthesis and 3-hydroxy-3-methyl-glutaryl coenzyme A reductase in cultured glial and neuronal cells. Regulation by lipoprotein and by certain free sterols. Biochim Biophys Acta. 1977 Mar 25;486(3):408-20. [PubMed:856284 ]
  11. Clark RM, Fey MB, Jensen RG, Hill DW: Desmosterol in human milk. Lipids. 1983 Mar;18(3):264-6. [PubMed:6855485 ]
  12. Porter FD: Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr Opin Pediatr. 2003 Dec;15(6):607-13. [PubMed:14631207 ]
  13. Yu H, Patel SB: Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet. 2005 Nov;68(5):383-91. [PubMed:16207203 ]

Enzymes

General function:
Energy production and conversion
Specific function:
Catalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis.
Gene Name:
DHCR24
Uniprot ID:
Q15392
Molecular weight:
60100.805
Reactions
Cholesterol + NADP → Desmosterol + Hydrogen Ion + NADPHdetails