HSD3B7 encodes an enzyme(hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7) 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 HSD3B7 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 HSD3B7.蛋白別名為:HSD3B7; 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;基因ID為:80270;蛋白質ID:Q9H2F3
應用類型
WB,ELISA補充:最優的抗體稀釋比例需要基于客戶實驗進行優化.建議的起始稀釋比例如下: WB: 1:500-1:2000, ELISA: 1:20000. Not yet tested in other applications.
免疫原
合成多肽:the Internal region of human 3β-HSD7. at AA rangle: 90-170