HSD3B7 encodes an enzyme (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7) 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 HSD3B7 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 HSD3B7.
Cerere de ofertă
La cerere
Număr Catalog 772-BT-AP00031-20ulCategorieAfaceri și industrie > Știință și laboratorFurnizorJiaxing Korain Biotech Ltd (BT Labs)GentaurDimensiune20ulTipsingle