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NR1H4 - nuclear receptor subfamily 1 group H member 4
- Synonym(s) : bile acid receptor, farnesoid X receptor, FXR, HRR1, HRR-1, RIP14
- Previous symbols and names : nuclear receptor subfamily 1, group H, member 4
- Type : gene with protein product
- Chromosomal location : 12q23.1
- OMIM: 603826
- HGNC: 7967
- UniProtKB: Q96RI1
- Genatlas: NR1H4
- GenCC: NR1H4
- Ensembl: ENSG00000012504
- IUPHAR-DB: 603
- Reactome: Q96RI1
- LOVD: NR1H4
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Progressive familial intrahepatic cholestasis type 5
ORPHA:480476 
- Candidate gene tested in Intrahepatic cholestasis of pregnancy
ORPHA:69665
: AssessedAdditional information
Patient-centred resources for this gene
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Specialised Social Services
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