7-dehydrocholesterol reductase; 7-DHC reductase; sterol reductase SR-2; sterol delta(7)-reductase (DHCR7 D7SR)

Function

• cholesterol biosynthesis
• production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol

Cholesterol + NADP+  <-->  cholesta-5,7-dien-3-beta-ol + NADPH

Structure

belongs to the ERG4/ERG24 family

Compartment

endoplasmic reticulum

Expression

• most abundant in adrenal gland, liver, testis, brain

Pathology

• defects in DHCR7 associated with Smith-Lemli-Opitz syndrome

More general terms

• oxidoreductase
• transmembrane 7 protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1717
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1717
• OMIM: https://mirror.omim.org/entry/270400
• OMIM: https://mirror.omim.org/entry/602858
• UniProt: http://www.uniprot.org/uniprot/Q9UBM7.html