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Human Metabolome Database Version 2.5

 

Showing metabocard for 8-Dehydrocholesterol (HMDB02027)

Legend: metabolite field enzyme field

Version 2.5
Creation Date 2006-05-22 15:17:32
Update Date 2009-05-05 20:59:02
Accession Number HMDB02027
Secondary Accession Numbers Not Available
Common Name 8-Dehydrocholesterol
Description 8-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)
Synonyms
  1. 3b-Cholesta-5,8-dien-3-ol
  2. 8-Dehydrocholesterol
Chemical IUPAC Name (3S,10S,13R,14R,17R)-10,13-dimethyl-17-[(2R)-6-methylheptan-2-yl]-2,3,4,7,11,12,14,15,16,17-decahydro-1H-cyclopenta[a]phenanthren-3-ol
Chemical Formula C27H44O
Chemical Structure Structure
Chemical Taxonomy
Kingdom
  • Organic
Super Class
  • Cholesterols and derivatives
Class
  • Steroids and Steroid Derivatives
Sub Class
  • Miscellaneous steroids
Family
  • Mammalian Metabolite
Species
  • secondary alcohol
  • alkene
Biofunction
  • Hormones, Membrane component
Application
—
Source
  • Endogenous
Average Molecular Weight 384.638
Monoisotopic Molecular Weight 384.339203
Isomeric SMILES CC(C)CCC[C@@H](C)[C@H]1CC[C@H]2C3=C(CC[C@]12C)[C@@]1(C)CC[C@H](O)CC1=CC3
Canonical SMILES CC(C)CCCC(C)C1CCC2C3=C(CCC12C)C1(C)CCC(O)CC1=CC3
KEGG Compound ID Not Available
BioCyc ID Not Available
BiGG ID Not Available
Wikipedia Link Not Available
NuGOwiki Link HMDB02027 Link Image
Metagene Link HMDB02027 Link Image
METLIN ID Not Available
PubChem Compound 129846 Link Image
PubChem Substance 10242450 Link Image
ChEBI ID Not Available
CAS Registry Number 70741-38-7
InChI Identifier InChI=1/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
Synthesis Reference Not Available
Melting Point (Experimental) Not Available
Experimental Water Solubility Not Available Source: PhysProp
Predicted Water Solubility 9.14e-04 mg/mL [Predicted by ALOGPS] Calculated using ALOGPS
Physiological Charge 0
State Solid
Experimental LogP/Hydrophobicity Not Available Source: PhysProp
Predicted LogP/Hydrophobicity 7.4 [Predicted by PubChem via XLOGP]; 6.91 [Predicted by ALOGPS] Calculated using ALOGPS
Material Safety Data Sheet (MSDS) Not Available
MOL File Show
SDF File Show
PDB File Show
2D Structure
3D Structure
Experimental PDB ID Not Available
Experimental 1H NMR Spectrum Not Available
Experimental 13C NMR Spectrum Not Available
Experimental 13C HSQC Spectrum Not Available
Predicted 1H NMR Spectrum Show Image
Show Peaklist
Predicted 13C NMR Spectrum Show Image
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Mass Spectrum Not Available
Simplified TOCSY Spectrum Not Available
BMRB Spectrum Not Available
Cellular Location Not Available
Biofluid Location
  • Blood
  • Cerebrospinal Fluid
Tissue Location Not Available
Concentrations (Normal)
Biofluid Blood
Value 0.65 (0.0-1.3) uM
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
  • 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. [PubMed Link Image]
Concentrations (Abnormal)
Biofluid Blood
Value 312.0 +/- 52.0 uM
Age Adult:>18 yrs old
Sex Both
Condition Smith-Lemli-Opitz syndrome
Comments Not Available
References
  • 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. [PubMed Link Image]
Biofluid CSF
Value 0.3 +/- 0.1 (0.2 - 0.5) uM
Age Infant:0-1 yr old
Sex N/A
Condition Smith-Lemli-Opitz syndrome
Comments Not Available
References
  • 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. [PubMed Link Image]
Associated Disorders
Condition References
Smith-Lemli-Opitz syndrome
OMIM ID
  • 270400 Link Image (Smith-Lemli-Opitz syndrome)
Pathways
Name SMPDB Link KEGG Link
Steroid Biosynthesis SMP00023 Link Image map00100 Link Image
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. [PubMed Link Image]