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Record Information
Version4.0
StatusDetected and Quantified
Creation Date2006-05-22 15:12:05 UTC
Update Date2019-01-11 19:17:12 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
Data?1547234232
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 DehydrocholesterolHMDB
DemosterolHMDB
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
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 effect

Health effect:

Disposition

Route of exposure:

Source:

Biological location:

Process

Naturally occurring process:

Role

Biological role:

Industrial application:

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
Spectrum TypeDescriptionSplash KeyView
GC-MSGC-MS Spectrum - EI-B (Non-derivatized)splash10-00xr-6973000000-9b8478114c7fec1504f2JSpectraViewer | MoNA
GC-MSGC-MS Spectrum - EI-B (Non-derivatized)splash10-00xr-6973000000-9b8478114c7fec1504f2JSpectraViewer | MoNA
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positivesplash10-0axr-1109000000-c96b90d5bc5f0ee8db10JSpectraViewer | MoNA
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (1 TMS) - 70eV, Positivesplash10-002f-3105900000-043e100bd5bd92eb1582JSpectraViewer | MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Positivesplash10-014r-0019000000-9cec9aa1e8ad662bef64JSpectraViewer | MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Positivesplash10-014i-2149000000-6218d03e9c19a9f2887fJSpectraViewer | MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Positivesplash10-02ta-4259000000-713a8956eb12b8b2003dJSpectraViewer | MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Negativesplash10-001i-0009000000-387b878bf983d0b8ac76JSpectraViewer | MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Negativesplash10-001i-0009000000-2d0cbb4e60d96f291bceJSpectraViewer | MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Negativesplash10-0gb9-1019000000-37313ec6fa045ceba894JSpectraViewer | MoNA
MSMass Spectrum (Electron Ionization)splash10-0avl-7941000000-99b5e69bc97a4056fa8cJSpectraViewer | MoNA
Biological Properties
Cellular Locations
  • Extracellular
  • Membrane (predicted from logP)
  • Endoplasmic reticulum
Biospecimen Locations
  • Blood
  • Semen
Tissue Locations
  • Brain
  • Kidney
Pathways
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified1.300 +/- 0.780 uMChildren (1-13 years old)Not SpecifiedNormal details
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
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified155.991 uMChildren (1-13 years old)MaleDesmosterolosis details
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 ]
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 ]
Associated OMIM IDs
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FoodDB IDFDB005374
KNApSAcK IDC00023743
Chemspider ID388662
KEGG Compound IDC01802
BioCyc IDDESMOSTEROL-CPD
BiGG ID38445
Wikipedia LinkDesmosterol
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