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HSD3B7
Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7C(27)-3BETA-HSD, SDR11E3
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. [provided by RefSeq, Dec 2008]
Top validated antibodies |
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| LSBio |  LS-C405060 |
Polyclonal |
WB
EL
IHC
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| Proteintech Group | 10488-1-AP |
Polyclonal |
WB
EL
IP
IHC
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| Biorbyt | orb5479 |
Polyclonal |
WB
EL
ICC
IHC
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| OriGene | AP33214PU-N |
Polyclonal |
WB
EL
IHC
|
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| antibodies-online | ABIN680018 |
Polyclonal |
WB
EL
ICC
IHC
|
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