7-Dehydrocholesterol reductase

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

7-Dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.[1][2][3]

Function

7-dehydrocholesterol reductase
Identifiers
EC number1.3.1.21
CAS number9080-21-1
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO

The protein encoded by this gene is an enzyme catalyzing the production of cholesterol from 7-Dehydrocholesterol using NADPH.

The DHCR7 gene encodes delta-7-sterol reductase (EC 1.3.1.21), the ultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development.[1]

Pathology

A deficiency is associated with Smith-Lemli-Opitz syndrome.[4]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles. [§ 1]

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|{{{bSize}}}px|alt=Vitamin D Synthesis Pathway (view / edit)]]
Vitamin D Synthesis Pathway (view / edit)
  1. The interactive pathway map can be edited at WikiPathways: "VitaminDSynthesis_WP1531".

See also

References

  1. 1.0 1.1 "Entrez Gene: DHCR7 7-dehydrocholesterol reductase".
  2. Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (Feb 1998). "Molecular cloning and expression of the human delta7-sterol reductase". Proceedings of the National Academy of Sciences of the United States of America. 95 (4): 1899–902. doi:10.1073/pnas.95.4.1899. PMC 19210. PMID 9465114.
  3. Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD (Jul 1998). "Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome". American Journal of Human Genetics. 63 (1): 55–62. doi:10.1086/301936. PMC 1377256. PMID 9634533.
  4. Yu H, Patel SB (Nov 2005). "Recent insights into the Smith-Lemli-Opitz syndrome". Clinical Genetics. 68 (5): 383–91. doi:10.1111/j.1399-0004.2005.00515.x. PMC 1350989. PMID 16207203.

Further reading

External links


This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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