7-Dehydrocholesterol reductase

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7-dehydrocholesterol reductase
Identifiers
Symbols DHCR7 ; SLOS
External IDs OMIM602858 MGI1298378 HomoloGene1042 GeneCards: DHCR7 Gene
EC number 1.3.1.21
RNA expression pattern
PBB GE DHCR7 201791 s at tn.png
PBB GE DHCR7 201790 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1717 13360
Ensembl ENSG00000172893 ENSMUSG00000058454
UniProt Q9UBM7 O88455
RefSeq (mRNA) NM_001163817 NM_007856
RefSeq (protein) NP_001157289 NP_031882
Location (UCSC) Chr 11:
71.14 – 71.16 Mb
Chr 7:
143.82 – 143.85 Mb
PubMed search [1] [2]

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
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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 (February 1998). "Molecular cloning and expression of the human delta7-sterol reductase". Proc. Natl. Acad. Sci. U.S.A. 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 (July 1998). "Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome". Am. J. Hum. Genet. 63 (1): 55–62. doi:10.1086/301936. PMC 1377256. PMID 9634533. 
  4. ^ Yu H, Patel SB (November 2005). "Recent insights into the Smith-Lemli-Opitz syndrome". Clin. Genet. 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.