HSD3B7 抗原（重組蛋白）

Full name:

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

Synonyms:

CBAS1; PFIC4; SDR11E3

Swissprot:

Q9H2F3

Gene Accession:

BC004929

Purity:

>85%, as determined by Coomassie blue stained SDS-PAGE

Expression system:

Escherichia coli

Tags:

His tag C-Terminus, GST tag N-Terminus

Background:

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.