Primary Identifier | MGI:1915270 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 68020 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Involved in mitochondrial cytochrome c oxidase assembly; protein stabilization; and response to reactive oxygen species. Acts upstream of or within intrinsic apoptotic signaling pathway. Located in mitochondrion. Human ortholog(s) of this gene implicated in mitochondrial complex IV deficiency nuclear type 17. Orthologous to human COA8 (cytochrome c oxidase assembly factor 8). PHENOTYPE: Homozygous KO leads to defects in the mitochondrial respiratory chain, resulting in impaired endurance, coordination and locomotor activity. [provided by MGI curators] |