Primary Identifier | MGI:98443 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 20930 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cytochrome-c oxidase activity. Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is expressed in brain; embryo; and skeletal muscle. Used to study Leigh disease. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4K; Leigh disease; and mitochondrial complex IV deficiency nuclear type 1. Orthologous to human SURF1 (SURF1 cytochrome c oxidase assembly factor). PHENOTYPE: Mutations in this gene affect calcium uptake by mitochondria in neurons. [provided by MGI curators] |