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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].
3 beta-hydroxy-delta 5-C27-steroid oxidoreductase; 3 beta-hydroxysteroid dehydrogenase type 7; 3 beta-hydroxysteroid dehydrogenase type VII; 3-beta-HSD VII; 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; AI195443; BB098564; C(27) 3-beta-HSD; C(27)-3BETA-HSD; CBAS1; Cca2; cholest-5-ene-3-be; cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase; Confluent 3Y1 cell-associated 2; HSD3B7; hsd3b7 {ECO:0000312; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7; PFIC4; RGD:628727}; SDR11E3; short chain dehydrogenase/reductase family 11E, member 3
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