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HSD3B7 is 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.
Gene Name: | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
Synonyms: | HSD3B7, 3-beta-HSD VII, CBAS1, C(27) 3-beta-HSD, C(27)-3BETA-HSD, PFIC4, SDR11E3 |
Target Sequences: | NM_025193 NP_079469.2 Q9H2F3 |
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