Primary Identifier | MGI:97569 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 18670 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATPase-coupled transmembrane transporter activity and phosphatidylcholine floppase activity. Involved in bile acid secretion and response to fenofibrate. Located in intercellular canaliculus and plasma membrane. Is expressed in alimentary system and liver. Used to study cholecystitis; cholestasis; hepatocellular carcinoma; intrahepatic cholestasis; and primary sclerosing cholangitis. Human ortholog(s) of this gene implicated in cholestasis (multiple) and liver cirrhosis (multiple). Orthologous to human ABCB4 (ATP binding cassette subfamily B member 4). PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months. [provided by MGI curators] |