Gene: NR1H4

Alternate names for this Gene: BAR|FXR|HRR-1|HRR1|PFIC5|RIP14

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q23.1

Description of this Gene: nuclear receptor subfamily 1 group H member 4

Type of Gene: protein-coding

rs75061399 in NR1H4 gene and Low density lipoprotein cholesterol measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs113090017 in NR1H4 gene and Progressive intrahepatic cholestasis (disorder) PMID 26888176 2016 Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.

PMID 21633855 2012 A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis.