Primary Identifier | MGI:104649 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 12862 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable enzyme regulator activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Located in mitochondrion. Part of respiratory chain complex IV. Is active in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; brain; heart; limb; and musculature. Human ortholog(s) of this gene implicated in mitochondrial complex IV deficiency nuclear type 18. Orthologous to human COX6A2 (cytochrome c oxidase subunit 6A2). PHENOTYPE: Mice homozygous for a null mutation exhibit cardiac dysfunction as a result of abnormal ventricular filling or diastolic dysfunction under maximal cardiac load. [provided by MGI curators] |