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7-Dehydrocholesterol reductase

DHCR7
Identifiers
Aliases DHCR7, SLOS, 7-dehydrocholesterol reductase
External IDs OMIM: 602858 MGI: 1298378 HomoloGene: 1042 GeneCards: DHCR7
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
NP_001351

NP_031882.1

Location (UCSC) Chr 11: 71.43 – 71.45 Mb Chr 7: 143.82 – 143.85 Mb
PubMed search
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

NM_001163817
NM_001360

NM_007856

NP_001157289
NP_001351

NP_031882.1

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

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.


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Wikipedia

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