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Record Information
StatusDetected and Quantified
Creation Date2006-05-22 15:12:05 UTC
Update Date2020-10-09 21:02:46 UTC
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, 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 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 ).
24 DehydrocholesterolMeSH, HMDB
DemosterolMeSH, HMDB
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[^{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-methylhept-5-en-2-yl]tetracyclo[^{2,7}.0^{11,15}]heptadec-7-en-5-ol
CAS Registry Number313-04-2
InChI Identifier
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
  • 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
Physiological effect

Health effect:


Route of exposure:


Biological location:


Naturally occurring process:


Biological role:

Industrial application:

Physical Properties
Experimental Properties
Melting Point121.5 °CNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Properties
Water Solubility0.00011 g/LALOGPS
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
Polarizability49.67 ųChemAxon
Number of Rings4ChemAxon
Rule of FiveNoChemAxon
Ghose FilterNoChemAxon
Veber's RuleYesChemAxon
MDDR-like RuleNoChemAxon
Spectrum TypeDescriptionSplash KeyView
GC-MSGC-MS Spectrum - EI-B (Non-derivatized)splash10-00xr-6973000000-9b8478114c7fec1504f2Spectrum
GC-MSGC-MS Spectrum - EI-B (Non-derivatized)splash10-00xr-6973000000-9b8478114c7fec1504f2Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positivesplash10-0axr-1109000000-c96b90d5bc5f0ee8db10Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (1 TMS) - 70eV, Positivesplash10-002f-3105900000-043e100bd5bd92eb1582Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Positivesplash10-014r-0019000000-9cec9aa1e8ad662bef64Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Positivesplash10-014i-2149000000-6218d03e9c19a9f2887fSpectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Positivesplash10-02ta-4259000000-713a8956eb12b8b2003dSpectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Negativesplash10-001i-0009000000-387b878bf983d0b8ac76Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Negativesplash10-001i-0009000000-2d0cbb4e60d96f291bceSpectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Negativesplash10-0gb9-1019000000-37313ec6fa045ceba894Spectrum
MSMass Spectrum (Electron Ionization)splash10-0avl-7941000000-99b5e69bc97a4056fa8cSpectrum
Biological Properties
Cellular Locations
  • Extracellular
  • Membrane (predicted from logP)
  • Endoplasmic reticulum
Biospecimen Locations
  • Blood
  • Semen
Tissue Locations
  • Brain
  • Kidney
Normal Concentrations
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
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 ]
  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
FooDB IDFDB005374
KNApSAcK IDC00023743
Chemspider ID388662
KEGG Compound IDC01802
BiGG ID38445
Wikipedia LinkDesmosterol
PubChem Compound439577
PDB IDNot Available
ChEBI ID17737
Food Biomarker OntologyNot Available
MarkerDB IDMDB00000398
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. 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 ]
  2. 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 ]
  3. Dennick RG, Dean PD, Abramovich DA: Desmosterol levels in human foetal brain--a reassessment. J Neurochem. 1973 Apr;20(4):1293-4. [PubMed:4697890 ]
  4. 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 ]
  5. 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 ]
  6. 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 ]
  7. 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 ]
  8. 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 ]
  9. 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 ]
  10. Clark RM, Fey MB, Jensen RG, Hill DW: Desmosterol in human milk. Lipids. 1983 Mar;18(3):264-6. [PubMed:6855485 ]
  11. 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 ]
  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 ]


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:
Uniprot ID:
Molecular weight:
Cholesterol + NADP → Desmosterol + Hydrogen Ion + NADPHdetails