Desmosterol (CHEM003291)

IdentificationTaxonomyBiological PropertiesPhysical PropertiesToxicity ProfileSpectraConcentrationsLinksReferencesXML
Record Information
Version1.0
Creation Date2014-08-29 06:28:28 UTC
Update Date2026-03-26 23:28:37 UTC
Accession NumberCHEM003291
Identification
Common NameDesmosterol
ClassSmall Molecule
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. (1, 2).
Contaminant Sources
  • FooDB Chemicals
  • STOFF IDENT Compounds
  • T3DB toxins
Contaminant Type
  • Animal Toxin
  • Food Toxin
  • Metabolite
  • Natural Compound
  • Organic Compound
Chemical Structure
Thumb
MOLSDFPDBSMILESInChI
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
(3beta)-Cholesta-5,24-dien-3-olHMDB
(3Β)-cholesta-5,24-dien-3-olHMDB
24,25-DehydrocholesterolHMDB
DesmosterolHMDB
Chemical FormulaC27H44O
Average Molecular Mass384.638 g/mol
Monoisotopic Mass384.339 g/mol
CAS Registry Number313-04-2
IUPAC NameNot Available
Traditional Name(1S,2R,5S,10S,11S,14R,15R)-2,15-dimethyl-14-[(2R)-6-methylhept-5-en-2-yl]tetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadec-7-en-5-ol
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 IdentifierInChI=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
Biological Properties
StatusDetected and Not Quantified
OriginEndogenous
Cellular Locations
  • Endoplasmic reticulum
  • Extracellular
  • Membrane
Biofluid LocationsNot Available
Tissue Locations
  • Brain
  • Kidney
Pathways
NameSMPDB LinkKEGG Link
Steroid BiosynthesisSMP00023 map00100
DesmosterolosisSMP00386 Not Available
ApplicationsNot Available
Biological Roles
Chemical RolesNot Available
Physical Properties
StateSolid
AppearanceWhite powder.
Experimental Properties
PropertyValue
Melting Point121.5°C
Boiling PointNot Available
SolubilityNot 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
Polarizability49.67 ųChemAxon
Number of Rings4ChemAxon
Bioavailability1ChemAxon
Rule of FiveNoChemAxon
Ghose FilterNoChemAxon
Veber's RuleYesChemAxon
MDDR-like RuleNoChemAxon
Spectra
Spectra
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 GC-MSPredicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, PositiveNot AvailableSpectrum
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
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Negativesplash10-001i-0009000000-4d7a5f3b63c0fb62f1d7Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Negativesplash10-001i-0009000000-3697eddae534b800a992Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Negativesplash10-001i-0009000000-e7c1ee286ab735e93547Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Positivesplash10-000i-1009000000-1881c8faacf610d02817Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Positivesplash10-0a4i-7094000000-adf191ce524bfed85be3Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Positivesplash10-0a4l-9710000000-dc3e59d9eff8b9729026Spectrum
MSMass Spectrum (Electron Ionization)splash10-0avl-7941000000-99b5e69bc97a4056fa8cSpectrum
Toxicity Profile
Route of ExposureNot Available
Mechanism of ToxicityNot Available
MetabolismNot Available
Toxicity ValuesNot Available
Lethal DoseNot Available
Carcinogenicity (IARC Classification)No indication of carcinogenicity to humans (not listed by IARC).
Uses/SourcesThis is an endogenously produced metabolite found in the human body. It is used in metabolic reactions, catabolic reactions or waste generation.
Minimum Risk LevelNot Available
Health EffectsNot Available
SymptomsNot Available
TreatmentNot Available
Concentrations
Not Available
DrugBank IDNot Available
HMDB IDHMDB0002719
FooDB IDFDB005374
Phenol Explorer IDNot Available
KNApSAcK IDC00023743
BiGG ID38445
BioCyc IDDESMOSTEROL-CPD
METLIN ID423
PDB IDNot Available
Wikipedia LinkDesmosterol
Chemspider ID388662
ChEBI ID17737
PubChem Compound ID439577
Kegg Compound IDC01802
YMDB IDYMDB16151
ECMDB IDNot Available
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.
MSDSLink
General References
1. https://www.ncbi.nlm.nih.gov/pubmed/?term=19115107
2. https://www.ncbi.nlm.nih.gov/pubmed/?term=23042211
3. https://www.ncbi.nlm.nih.gov/pubmed/?term=24095826
4. https://www.ncbi.nlm.nih.gov/pubmed/?term=24378747
5. https://www.ncbi.nlm.nih.gov/pubmed/?term=5432584
6. Kircher, 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.
7. Kircher, 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.
8. 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.
9. 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.
10. Dennick RG, Dean PD, Abramovich DA: Desmosterol levels in human foetal brain--a reassessment. J Neurochem. 1973 Apr;20(4):1293-4.
11. 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.
12. 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.
13. 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.
14. 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.
15. 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.
16. 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.
17. Clark RM, Fey MB, Jensen RG, Hill DW: Desmosterol in human milk. Lipids. 1983 Mar;18(3):264-6.
18. 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.
19. Porter FD: Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr Opin Pediatr. 2003 Dec;15(6):607-13.
20. Yu H, Patel SB: Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet. 2005 Nov;68(5):383-91.