hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7(HSD3B7)Homo sapiensThis 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],
Function:
catalytic activity:3-beta-hydroxy-Delta(5)-steroid + NAD(+) = 3-oxo-Delta(5)-steroid + NADH.,catalytic activity:Cholest-5-ene-3-beta,7-alpha-diol + NAD(+) = 7-alpha-hydroxycholest-4-en-3-one + NADH.,disease:Defects in HSD3B7 are the cause of congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]; also known as neonatal progressive intrahepatic cholestasis. CBAS1 is due to a primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis and cirrhosis.,function:Plays a central role during spermatogenesis by repressing transposable elements and prevent their mobilization, which is essential for the germline integrity. Plays an essential role in meiotic differentiation of spermatocytes, germ cell differentiation and in self-renewal of spermatogonial stem cells. Its presence in oocytes suggests tha
Subcellular Location:
endoplasmic reticulum membrane,integral component of membrane,
Western Blot analysis of various cells using 3β-HSD7 Polyclonal Antibody diluted at 1:1000
Western Blot analysis of COLO205 cells using 3β-HSD7 Polyclonal Antibody diluted at 1:1000
Western blot analysis of lysates from HeLa, MCF-7, and COLO cells, using HSD3B7 Antibody. The lane on the right is blocked with the synthesized peptide.
Western blot analysis of the lysates from Jurkat cells using HSD3B7 antibody.