7-Dehydrocholesterol reductase

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DHCR7
Identifiers
Aliases DHCR7, SLOS, 7-dehydrocholesterol reductase
External IDs OMIM: 602858 MGI: 1298378 HomoloGene: 1042 GeneCards: 1717
EC number 1.3.1.21
RNA expression pattern
PBB GE DHCR7 201790 s at tn.png

PBB GE DHCR7 201791 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001163817
NM_001360

NM_007856

RefSeq (protein)

NP_001157289.1
NP_001351.2

NP_031882.1

Location (UCSC) Chr 11: 71.43 – 71.45 Mb Chr 7: 143.82 – 143.85 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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

Function[edit]

7-dehydrocholesterol reductase
Identifiers
EC number 1.3.1.21
CAS number 9080-21-1
Databases
IntEnz IntEnz view
BRENDA BRENDA entry
ExPASy NiceZyme view
KEGG KEGG entry
MetaCyc metabolic pathway
PRIAM profile
PDB structures RCSB PDB PDBe PDBsum
Gene Ontology AmiGO / EGO

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[edit]

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

Interactive pathway map[edit]

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

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VitaminDSynthesis_WP1531 Go to article Go to article Go to article Go to article go to article Go to article Go to article Go to article go to article go to article go to article go to article Go to article Go to article go to article Go to article go to article go to article go to article Go to article go to article
|{{{bSize}}}px|alt=Vitamin D Synthesis Pathway edit]]
Vitamin D Synthesis Pathway edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "VitaminDSynthesis_WP1531". 

References[edit]

  1. ^ a b "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[edit]

External links[edit]

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