Primary Identifier | MGI:88476 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 12870 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables copper ion binding activity and ferroxidase activity. Predicted to be involved in intracellular monoatomic cation homeostasis; iron ion transport; and response to copper ion. Located in extracellular space. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system; and sensory organ. Used to study aceruloplasminemia. Human ortholog(s) of this gene implicated in aceruloplasminemia; epilepsy; and hemosiderosis. Orthologous to human CP (ceruloplasmin). PHENOTYPE: Homozygotes for targeted null mutations exhibit progressive accumulation of stored iron in the liver, spleen, cerebellum, and brainstem, mild iron deficiency anemia, and impaired motor coordination associated with loss of brainstem dopaminergic neurons. [provided by MGI curators] |