Gene Symbol | NR1H4 |
Entrez Gene ID | 9971 |
Full Name | nuclear receptor subfamily 1 group H member 4 |
Synonyms | BAR,FXR,HRR-1,HRR1,PFIC5,RIP14 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]. |
Disorder MIM: | |
Disorder Html: | Cholestasis, progressive familial intrahepatic, 5, 617049 (3) |