HSD3B7 (NP_079469, 101 a.a. ~ 209 a.a) partial recombinant protein with GST tag. The sequence is IHEVNVQGTRNVIEACVQTGTRFLVYTSSMEVVGPNTKGHPFYRGNEDTPYEAVHRHPYP CSKALAEWLVLEANGRKVRGGLPLVTCALRPTGIYGEGHQIMRDFYRQG
Conjugate
Unconjugated
Target
Alternative Names
HSD3B7; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7; CBAS1; PFIC4; SDR11E3; 3 beta-hydroxysteroid dehydrogenase type 7; 3-beta-HSD VII; C(27)-3BETA-HSD; c(27) 3-beta-HSD; 3 beta-hydroxysteroid dehydrogenase type VII; 3 bet
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; cholate/chenodeoxycholate; cholate/chenodeoxycholate; Metabolism of lipids and lipoproteins
Citations
Publication ()
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