Primary Identifier | MGI:102504 | Organism | mouse, laboratory |
Chromosome | MT | NCBI Gene Number | 17708 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables cytochrome-c oxidase activity. Predicted to be involved in electron transport coupled proton transport; mitochondrial electron transport, cytochrome c to oxygen; and response to oxidative stress. Located in mitochondrial inner membrane. Part of mitochondrial respiratory chain complex IV. Is active in mitochondrion. Is expressed in several structures, including brain; brown fat; liver; musculature; and stomach. Orthologous to human MT-CO1 (mitochondrially encoded cytochrome c oxidase I). PHENOTYPE: Transmitochondrial mice carrying homoplasmic mtDNAs with a missense mutation in this gene show growth retardation, reduced COX activity in cardiac cells, increased blood lactate levels, mitochondrial myopathy, heart inflammation and edema, abnormal bloodvessel morphology, and severe cardiomyopathy. [provided by MGI curators] |