| Primary Identifier | MGI:1859665 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 54670 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables aminophospholipid flippase activity and cardiolipin binding activity. Involved in several processes, including aminophospholipid transport; bile acid and bile salt transport; and nervous system development. Acts upstream of or within bile acid metabolic process. Located in plasma membrane and stereocilium. Is expressed in adrenal gland; alimentary system; and liver. Human ortholog(s) of this gene implicated in benign recurrent intrahepatic cholestasis 1; intrahepatic cholestasis; intrahepatic cholestasis of pregnancy 1; and progressive familial intrahepatic cholestasis 1. Orthologous to human ATP8B1 (ATPase phospholipid transporting 8B1). PHENOTYPE: Homozygous mice display abnormal bile salt homeostasis, normal bile secretion, and an impaired ability to handle increased bile salt loading resulting in liver damage and weight loss on a bile salt supplemented diet. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
