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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. Additionally we are shipping Hydroxy-delta-5-Steroid Dehydrogenase, 3 beta- and Steroid delta-Isomerase 7 Proteins (4) and many more products for this protein.
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Homozygosity mapping identifies a bile acid biosynthetic defect (3beta-HSD (show CHST3 Antibodies) deficiency due to a frameshift mutation in HSD3B7) in an adult with cirrhosis of unknown etiology.
Mutations in the HSD3B7 gene account for autosomal recessive neonatal cholestasis caused by 3[beta]-hydroxy-[DELTA]5-C27-steroid dehydrogenase (show HSD17B12 Antibodies)/isomerase deficiency.
Findings indicate that CYP7B1 (show CYP7B1 Antibodies) and HSD3B7, as well as CH25H (show CH25H Antibodies), have essential roles in controlling oxysterol production in lymphoid tissues.
Catalyzes two reactions required for inversion of the cholesterol 3beta-hydroxyl group to the 3alpha-hydroxyl of bile acids; its stereochemical alteration eliminates cholesterol absorption in the gut (show GUSB Antibodies) and enterohepatic circulation feedback regulation.
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.
3 beta-hydroxy-delta 5-C27-steroid oxidoreductase
, 3 beta-hydroxysteroid dehydrogenase type 7
, 3 beta-hydroxysteroid dehydrogenase type VII
, 3-beta-HSD VII
, 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase
, c(27) 3-beta-HSD
, cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase
, short chain dehydrogenase/reductase family 11E, member 3
, confluent 3Y1 cell-associated 2