Fusion protein corresponding to N terminal 178 amino acids of human HSD3B7
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Full name: |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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Synonyms: |
CBAS1; PFIC4; SDR11E3 |
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Swissprot: |
Q9H2F3 |
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Gene Accession: |
BC004929 |
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Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
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Expression system: |
Escherichia coli |
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Tags: |
His tag C-Terminus, GST tag N-Terminus |
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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. |
