HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 80270)
Source: NCBI Gene (ID 80270)
Symbol: HSD3B7
Full name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: CBAS1; PFIC4; SDR11E3
Summary: This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Expression: Ubiquitous expression in liver (RPKM 10.0), kidney (RPKM 6.4) and 25 other tissues
Orthologs: mouse
Gene size: 3941bp
Exon count: 7