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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. Zusätzlich bieten wir Ihnen Hydroxy-delta-5-Steroid Dehydrogenase, 3 beta- and Steroid delta-Isomerase 7 Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
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Novel Mutations in the 3beta-hydroxy-5-C27-steroid Dehydrogenase (zeige HSD17B12 Antikörper) Gene (HSD3B7) in a Patient with Neonatal Cholestasis.
Expression of steroid sulfated (zeige SULF1 Antikörper) transporters and 3beta-HSD (zeige CHST3 Antikörper) activity in endometrium of polycystic ovary syndrome
Homozygosity mapping identifies a bile acid biosynthetic defect (3beta-HSD (zeige CHST3 Antikörper) 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 (zeige HSD17B12 Antikörper)/isomerase deficiency.
Findings indicate that CYP7B1 (zeige CYP7B1 Antikörper) and HSD3B7, as well as CH25H (zeige CH25H Antikörper), 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 (zeige GUSB Antikörper) 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