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.
HSD3B7; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7; 3 beta-hydroxysteroid dehydrogenase type 7; C(27) 3BETA HSD; SDR11E3; short chain dehydrogenase/reductase family 11E; member 3; BB098564; OTTMUSP00000018895; OTTMUSP00000018897; 3 beta HSD VII; 3 beta hydroxy Delta(5) C27 steroid oxidoreductase; 3 beta hydroxysteroid dehydrogenase type 7; 3 beta hydroxysteroid dehydrogenase type VII; AI195443; C(27) 3 beta HSD; Cca2; Cholest 5 ene 3 beta,7 alpha diol 3 beta dehydrogenase; Confluent 3Y1 cell associated 2; Hydroxy delta 5 steroid dehydrogenase, 3 betaand steroid delta isomerase 7; OTTMUSP00000018894; PFIC4; 3-beta-HSD VII; C(27)-3BETA-HSD; c(27) 3-beta-HSD; OTTHUMP00000163254; 3 beta-hydroxysteroid dehydrogenase type VII; 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase; 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase; short chain dehydrogenase/reductase family 11E, member 3; CBAS1; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase; zgc:55799; wu:fc37e10; wu:fi12g10; fc37e10