7-Dehydrocholesterol reductase

7-Dehydrocholesterol reductase, also known as DHCR7, is a protein that in humans is encoded by the DHCR7 gene.^[5][6][7]

DHCR7
Identifiers
Aliases	DHCR7, SLOS, 7-dehydrocholesterol reductase
External IDs	OMIM: 602858; MGI: 1298378; HomoloGene: 1042; GeneCards: DHCR7; OMA:DHCR7 - orthologs
EC number	1.3.1.21
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.4 Start 71,428,193 bp[1] End 71,452,868 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 F5 Start 143,376,882 bp[2] End 143,402,147 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver right adrenal cortex oocyte islet of Langerhans left adrenal cortex secondary oocyte skin of leg C1 segment skin of abdomen corpus epididymis Top expressed in adrenal gland lip cumulus cell motor neuron left lobe of liver skin of external ear Gonadal ridge left colon condyle ectoderm More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor oxidoreductase activity NADP binding 7-dehydrocholesterol reductase activity sterol delta7 reductase activity Cellular component integral component of membrane endoplasmic reticulum membrane membrane intracellular membrane-bounded organelle integral component of endoplasmic reticulum membrane endoplasmic reticulum nuclear outer membrane cytosol Biological process cell differentiation steroid metabolic process sterol biosynthetic process multicellular organism growth lung development lipid metabolism cholesterol metabolic process post-embryonic development blood vessel development regulation of cell population proliferation cholesterol biosynthetic process via lathosterol cholesterol biosynthetic process via desmosterol steroid biosynthetic process cholesterol biosynthetic process brassinosteroid biosynthetic process regulation of cholesterol biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1717 13360 Ensembl ENSG00000172893 ENSMUSG00000058454 UniProt Q9UBM7 O88455 RefSeq (mRNA) NM_001163817 NM_001360 NM_007856 NM_001382498 NM_001382499 NM_001382500 NM_001382501 NM_001382502 NM_001382503 RefSeq (protein) NP_001157289 NP_001351 NP_031882 NP_001369427 NP_001369428 NP_001369429 NP_001369430 NP_001369431 NP_001369432 Location (UCSC) Chr 11: 71.43 – 71.45 Mb Chr 7: 143.38 – 143.4 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

7-dehydrocholesterol reductase
Identifiers
EC no.	1.3.1.21
CAS no.	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 / QuickGO
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.^[5]

Pathology

A deficiency is associated with Smith–Lemli–Opitz syndrome.^[8]

All house cats and dogs have higher-than-usual activity of this enzyme, causing an inability to synthesize vitamin D due to the lack of 7-dehydrocholesterol.^[9]

Interactive pathway map

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

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|alt=Vitamin D Synthesis Pathway (view / edit)]]

Vitamin D Synthesis Pathway (view / edit)

1. The interactive pathway map can be edited at WikiPathways: "VitaminDSynthesis_WP1531".

See also

• Steroidogenic enzyme