3-Beta-Hydroxysteroid Dehydrogenase Type 7 (HSD3b7)

HSD3B7 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.The predicted product showed 34% sequence identity with the C19 and C21 3-beta-HSD enzymes, which participate in steroid hormone metabolism.