NR1H4 nuclear receptor subfamily 1 group H member 4
Gene ID: 9971, updated on 14-Nov-2024Gene type: protein coding
Also known as: BAR; FXR; HRR1; HRR-1; PFIC5; RIP14
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]
Associated conditions
| Description | Tests |
|---|---|
| Cholestasis, progressive familial intrahepatic, 5 | not available |
| Genome-wide association study identifies a novel susceptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese. GeneReviews: Not available |
Genomic context
- Location:
- 12q23.1
- Sequence:
- Chromosome: 12; NC_000012.12 (100473866..100564414)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| SNP | Variation Viewer for NR1H4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
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