7-Dehydrocholesterol reductase

7-Dehydrocholesterol reductase
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 Q3UIQ5
RefSeq (mRNA) NM_001163817.1 NM_007856.2
RefSeq (protein) NP_001157289.1 NP_031882.1
Location (UCSC) Chr 11:
71.14 – 71.16 Mb
Chr 7:
151.01 – 151.03 Mb
PubMed search [1] [2]

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

Contents

Function

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 penultimate 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]

References

Further reading

External links

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