| Primary Identifier | MGI:3818630 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 100126824 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein-disulfide reductase activity. Acts upstream of or within several processes, including copper ion homeostasis; respiratory chain complex IV assembly; and response to activity. Located in mitochondrion. Is expressed in several structures, including alimentary system; aorta; blastocyst; gonad; and hemolymphoid system gland. Used to study cytochrome-c oxidase deficiency disease. Human ortholog(s) of this gene implicated in cytochrome-c oxidase deficiency disease; hypertrophic cardiomyopathy; mitochondrial complex IV deficiency nuclear type 2; and myopia. Orthologous to human SCO2 (synthesis of cytochrome C oxidase 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for a knock-out allele and a knock-in allele exhibit muscle weakness and reduced exercise endurance. [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
