| Primary Identifier | MGI:106362 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 52892 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable metal ion binding activity. Acts upstream of or within several processes, including cyclooxygenase pathway; mitochondrial cytochrome c oxidase assembly; and negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in mitochondrion. Is expressed in several structures, including cardiovascular system; genitourinary system; hemolymphoid system gland; liver; and submandibular gland primordium. Used to study cytochrome-c oxidase deficiency disease. Human ortholog(s) of this gene implicated in cytochrome-c oxidase deficiency disease and mitochondrial complex IV deficiency nuclear type 4. Orthologous to human SCO1 (synthesis of cytochrome C oxidase 1). PHENOTYPE: Mice homozygous for a conditional allele knocked out in the liver exhibit weight loss, premature death, spleen atrophy, reduced white blood cells, increased mitochondria proliferation, increased iron levels in the liver and spleen, and decreased copper levels in the liver and kidney. [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
