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Record Information
Version3.6
Creation Date2006-05-22 14:17:32 UTC
Update Date2016-02-11 01:05:13 UTC
HMDB IDHMDB02027
Secondary Accession NumbersNone
Metabolite Identification
Common Name8-Dehydrocholesterol
Description8-Dehydrocholesterol (8-DHC) elevated concentration is one of the diagnostic biochemical hallmarks of classical Smith-Lemli-Opitz syndrome (SLOS). Plasma 8-DHC could be only marginally elevated. (PMID: 16435228 ). Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive condition caused by a defect in cholesterol synthesis (caused by a deficit of 3beta-hydroxysterol-Delta7 reductase). Affected children often have malformations and mental retardation. Autistic behaviors also are evident. In children, the baseline cholesterol, 8-DHC levels, and cholesterol levels following supplementation does not correlate with the presence or severity of autistic symptoms. (PMID: 16761297 ). Accumulation of 8-dehydrocholesterol in Amniotic fluid is diagnostic for SLOS. (PMID 16231320 ).
Structure
Thumb
Synonyms
ValueSource
3b-Cholesta-5,8-dien-3-olHMDB
Chemical FormulaC27H44O
Average Molecular Weight384.6377
Monoisotopic Molecular Weight384.33921603
IUPAC Name(2S,5S,11R,14R,15R)-2,15-dimethyl-14-[(2R)-6-methylheptan-2-yl]tetracyclo[8.7.0.0²,⁷.0¹¹,¹⁵]heptadeca-1(10),7-dien-5-ol
Traditional Name8-dehydrocholesterol
CAS Registry Number70741-38-7
SMILES
[H][C@@]1(CC[C@@]2([H])C3=C(CC[C@]12C)[C@@]1(C)CC[C@H](O)CC1=CC3)[C@H](C)CCCC(C)C
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/h9,18-19,21,23-24,28H,6-8,10-17H2,1-5H3/t19-,21+,23-,24+,26+,27-/m1/s1
InChI KeyInChIKey=VUKORTMHZDZZFR-BXAZICILSA-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
  • 3-beta-hydroxysteroid
  • 3-beta-hydroxy-delta-5-steroid
  • Hydroxysteroid
  • 3-hydroxysteroid
  • 3-hydroxy-delta-5-steroid
  • Delta-5-steroid
  • Cyclic alcohol
  • Secondary alcohol
  • Hydrocarbon derivative
  • Organooxygen compound
  • Alcohol
  • Aliphatic homopolycyclic compound
Molecular FrameworkAliphatic homopolycyclic compounds
External Descriptors
Ontology
StatusDetected and Quantified
Origin
  • Endogenous
  • Food
Biofunction
  • Cell signaling
  • Fuel and energy storage
  • Fuel or energy source
  • Hormones, Membrane component
  • Membrane integrity/stability
Application
  • Nutrients
  • Stabilizers
  • Surfactants and Emulsifiers
Cellular locations
  • Extracellular
  • Membrane
Physical Properties
StateSolid
Experimental Properties
PropertyValueReference
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Properties
PropertyValueSource
Water Solubility0.000914 mg/mLALOGPS
logP6.91ALOGPS
logP6.66ChemAxon
logS-5.6ALOGPS
pKa (Strongest Acidic)18.27ChemAxon
pKa (Strongest Basic)-1.4ChemAxon
Physiological Charge0ChemAxon
Hydrogen Acceptor Count1ChemAxon
Hydrogen Donor Count1ChemAxon
Polar Surface Area20.23 Å2ChemAxon
Rotatable Bond Count5ChemAxon
Refractivity121.2 m3·mol-1ChemAxon
Polarizability50.14 Å3ChemAxon
Number of Rings4ChemAxon
Bioavailability1ChemAxon
Rule of FiveYesChemAxon
Ghose FilterYesChemAxon
Veber's RuleYesChemAxon
MDDR-like RuleYesChemAxon
Spectra
SpectraNot Available
Biological Properties
Cellular Locations
  • Extracellular
  • Membrane
Biofluid Locations
  • Blood
  • Cerebrospinal Fluid (CSF)
Tissue LocationNot Available
Pathways
NameSMPDB LinkKEGG Link
Alendronate pathwaySMP00095Not Available
Atorvastatin PathwaySMP00131Not Available
Cerivastatin PathwaySMP00111Not Available
CHILD SyndromeSMP00387Not Available
Cholesteryl ester storage diseaseSMP00508Not Available
Chondrodysplasia Punctata II, X Linked Dominant (CDPX2)SMP00388Not Available
DesmosterolosisSMP00386Not Available
Fluvastatin PathwaySMP00119Not Available
Hyper-IgD syndromeSMP00509Not Available
HypercholesterolemiaSMP00209Not Available
Ibandronate PathwaySMP00079Not Available
Lovastatin PathwaySMP00099Not Available
Lysosomal Acid Lipase Deficiency (Wolman Disease)SMP00319Not Available
Mevalonic aciduriaSMP00510Not Available
Pamidronate PathwaySMP00117Not Available
Pravastatin PathwaySMP00089Not Available
Risedronate PathwaySMP00112Not Available
Rosuvastatin PathwaySMP00092Not Available
Simvastatin Action PathwaySMP00082Not Available
Smith-Lemli-Opitz Syndrome (SLOS)SMP00389Not Available
Steroid BiosynthesisSMP00023map00100
Wolman diseaseSMP00511Not Available
Zoledronate PathwaySMP00107Not Available
Normal Concentrations
BiofluidStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified0.65 (0.0-1.3) uMAdult (>18 years old)BothNormal details
Abnormal Concentrations
BiofluidStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified312.0 +/- 52.0 uMAdult (>18 years old)BothSmith-Lemli-Opitz syndrome details
Cerebrospinal Fluid (CSF)Detected and Quantified0.3 +/- 0.1 (0.2 - 0.5) uMInfant (0-1 year old)Not SpecifiedSmith-Lemli-Opitz syndrome details
Associated Disorders and Diseases
Disease References
Smith-Lemli-Opitz syndrome
  1. van Rooij A, Nijenhuis AA, Wijburg FA, Schutgens RB: Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 1997 Aug;20(4):578-80. [9266395 ]
  2. Honda M, Tint GS, Honda A, Salen G, Shefer S, Batta AK, Matsuzaki Y, Tanaka N: Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 2000 Jul;23(5):464-74. [10947201 ]
Associated OMIM IDs
  • 270400 (Smith-Lemli-Opitz syndrome)
DrugBank IDNot Available
DrugBank Metabolite IDNot Available
Phenol Explorer Compound IDNot Available
Phenol Explorer Metabolite IDNot Available
FoodDB IDFDB022805
KNApSAcK IDNot Available
Chemspider ID114943
KEGG Compound IDNot Available
BioCyc IDNot Available
BiGG IDNot Available
Wikipedia LinkNot Available
NuGOwiki LinkHMDB02027
Metagene LinkHMDB02027
METLIN IDNot Available
PubChem Compound129846
PDB IDNot Available
ChEBI IDNot Available
References
Synthesis ReferenceNot Available
Material Safety Data Sheet (MSDS)Not Available
General References
  1. van Rooij A, Nijenhuis AA, Wijburg FA, Schutgens RB: Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 1997 Aug;20(4):578-80. [9266395 ]
  2. Haas D, Armbrust S, Haas JP, Zschocke J, Muhlmann K, Fusch C, Neumann LM: Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. J Inherit Metab Dis. 2005;28(6):1191-6. [16435228 ]
  3. Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD: The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2006 Jul 15;140(14):1511-8. [16761297 ]
  4. Chevy F, Humbert L, Wolf C: Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. Prenat Diagn. 2005 Nov;25(11):1000-6. [16231320 ]