Showing metabocard for Desmosterol (LMDB00408)

IdentificationTaxonomyOntologyPhysical propertiesSpectraBiological propertiesConcentrationsLinksReferencesXML
Record Information
Version1.0
Creation Date2016-07-13 19:49:11 UTC
Update Date2016-07-20 20:53:31 UTC
LmdbLMDB00408
Secondary Accession NumbersNone
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
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 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[8.7.0.0^{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-methylhept-5-en-2-yl]tetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadec-7-en-5-ol
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
StatusDetected and Quantified
OriginNot Available
BiofunctionNot Available
ApplicationNot Available
Cellular locationsNot Available
Physical Properties
StateNot Available
Experimental Properties
PropertyValueReference
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Properties
PropertyValueSource
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
BioavailabilityYesChemAxon
Rule of FiveYesChemAxon
Ghose FilterYesChemAxon
Veber's RuleYesChemAxon
MDDR-like RuleYesChemAxon
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
Biological Properties
Cellular LocationsNot Available
Biofluid Locations and Tissue Locations
  • Milk
  • Plasma
Concentrations
BiofluidStatusValueConditionSpeciesReferenceDetails
MilkDetected and Quantified1.39+/-0.49 mg/100g fatNot AvailableCaprine
    • Park, Y. W; Juáre...
 details
MilkDetected but not QuantifiedNot ApplicableNot AvailableOvine
    • Park, Y. W; Juáre...
 details
PlasmaDetected but not QuantifiedNot ApplicableNot AvailableOvine details
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 ReferenceNot Available
Material Safety Data Sheet (MSDS)Not Available
General References
  1. Porter FD: Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr Opin Pediatr. 2003 Dec;15(6):607-13. [14631207 ]
  2. Yu H, Patel SB: Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet. 2005 Nov;68(5):383-91. [16207203 ]