Primary Identifier | MGI:1351619 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 27413 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables canalicular bile acid transmembrane transporter activity. Involved in several processes, including canalicular bile acid transport; cholesterol homeostasis; and regulation of lipid metabolic process. Located in apical part of cell; intercellular canaliculus; and plasma membrane. Is expressed in liver. Human ortholog(s) of this gene implicated in benign recurrent intrahepatic cholestasis 2; intrahepatic cholestasis; liver cirrhosis; and progressive familial intrahepatic cholestasis 2. Orthologous to human ABCB11 (ATP binding cassette subfamily B member 11). PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display intrahepatic cholestasis. [provided by MGI curators] |