Reactivities: | Human |
Presku: | AAP49934 |
Size: | 100ug |
Weight: | 41kDa |
Gene: | 80270 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | PFIC4 |