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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. De plus, nous expédions Hydroxy-delta-5-Steroid Dehydrogenase, 3 beta- and Steroid delta-Isomerase 7 Protéines (4) et et beaucoup plus de produits pour cette protéine.
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Novel Mutations in the 3beta-hydroxy-5-C27-steroid Dehydrogenase (Montrer HSD17B12 Anticorps) Gene (HSD3B7) in a Patient with Neonatal Cholestasis.
Expression of steroid sulfated (Montrer SULF1 Anticorps) transporters and 3beta-HSD (Montrer CHST3 Anticorps) activity in endometrium of polycystic ovary syndrome
Homozygosity mapping identifies a bile acid biosynthetic defect (3beta-HSD (Montrer CHST3 Anticorps) 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 (Montrer HSD17B12 Anticorps)/isomerase deficiency.
Findings indicate that CYP7B1 (Montrer CYP7B1 Anticorps) and HSD3B7, as well as CH25H (Montrer CH25H Anticorps), 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 (Montrer GUSB Anticorps) 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