| Primary Identifier | MGI:103297 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 11979 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables P-type divalent copper transporter activity. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; lactation; and protein maturation by copper ion transfer. Located in membrane and trans-Golgi network. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study Wilson disease. Human ortholog(s) of this gene implicated in Wilson disease. Orthologous to human ATP7B (ATPase copper transporting beta). PHENOTYPE: Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice. [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
