Specifications
Immunogen
A synthetic peptide of human HSD3B7 is used for rabbit immunization.
Target
Alternative Names
HSD3B7; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7; 3 beta-hydroxysteroid dehydrogenase type 7; C(27) 3BETA HSD; SDR11E3; short chain dehydrogenase/reductase family 11E; member 3; 3-beta-HSD VII; C(27)-3BETA-HSD; c(27) 3-
Product Background
Antigen Description
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.
Pathway
Bile acid and bile salt metabolism, organism-specific biosystem; Bile acid biosynthesis, cholesterol => cholate, organism-specific biosystem; Bile acid biosynthesis, cholesterol => cholate, conserved biosystem; Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem;
Citations
Publication ()
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