Fusion protein corresponding to N terminal 178 amino acids of human HSD3B7 |
技術規格
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. |