7-Dehydrocholesterol reductase

7-dehydrocholesterol reductase
Identifiers
Symbols	DHCR7 ; SLOS
External IDs	OMIM: 602858 MGI: 1298378 HomoloGene: 1042 GeneCards: DHCR7 Gene
EC number	1.3.1.21
Gene ontology Molecular function • 7-dehydrocholesterol reductase activity Cellular component • nuclear outer membrane • endoplasmic reticulum • endoplasmic reticulum membrane • membrane • integral component of membrane Biological process • blood vessel development • cholesterol biosynthetic process • post-embryonic development • cell differentiation • lung development • multicellular organism growth • regulation of cell proliferation • small molecule metabolic process • regulation of cholesterol biosynthetic process • oxidation-reduction process Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE DHCR7 201791 s at tn.png
File: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: 71.43 – 71.45 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.

Function

7-dehydrocholesterol reductase
Identifiers
EC number	1.3.1.21
CAS number	Template:CAS
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
Search PMC articles PubMed articles NCBI proteins

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.

Pathology

A deficiency is associated with Smith-Lemli-Opitz syndrome.

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.

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|{{{bSize}}}px|alt=Vitamin D Synthesis Pathway edit]]

File:VitaminDSynthesis WP1531.png

Vitamin D Synthesis Pathway edit

External links

• GeneReviews/NIH/NCBI/UW entry on Smith-Lemli-Opitz Syndrome
• 7-dehydrocholesterol reductase at the US National Library of Medicine Medical Subject Headings (MeSH)

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