Primary Identifier | MGI:1352464 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 20186 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription factor activity, RNA polymerase II-specific; bile acid binding activity; and nuclear retinoid X receptor binding activity. Involved in several processes, including intracellular receptor signaling pathway; negative regulation of cytokine production; and regulation of signal transduction. Acts upstream of or within several processes, including bile acid metabolic process; negative regulation of very-low-density lipoprotein particle remodeling; and positive regulation of transcription by RNA polymerase II. Predicted to be located in euchromatin. Predicted to be part of RNA polymerase II transcription regulator complex and receptor complex. Predicted to be active in nucleus. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; gut; and sensory organ. Used to study hepatocellular carcinoma. Human ortholog(s) of this gene implicated in extrahepatic cholestasis; hepatocellular carcinoma; and progressive familial intrahepatic cholestasis 5. Orthologous to human NR1H4 (nuclear receptor subfamily 1 group H member 4). PHENOTYPE: Mice homozygous for knock-out alleles exhibit increased bile salts and abnormal liver morphology and physiology. Mice homozygous for one knock-out allele also exhibit abnormal lipid homeostasis. [provided by MGI curators] |