MT-CO2 Chromosome MT
Mitochondrially encoded cytochrome c oxidase II
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What This Gene Does
Contributes to cytochrome-c oxidase activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen and positive regulation of vasoconstriction. Located in mitochondrial inner membrane. Part of respiratory chain complex IV. Biomarker of Huntington's disease and stomach cancer. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Mitochondrial complex IV: cytochrome c oxidase subunits|Mitochondrially encoded protein coding genes|Cupredoxin superfamily"
Locus Type
gene with protein product
Location
mitochondria
Ensembl
ENSG00000198712
Associated Conditions (7)
Mitochondrial complex IV deficiency
nuclear type 1
Mitochondrial disease
Abnormal aortic valve physiology
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Tetralogy of Fallot
Abnormal mitral valve physiology
Key Variants
RS1556423388
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial disease
Health Risk
RS1569484165
Likely pathogenic
Abnormal aortic valve physiology, Abnormal aortic valve physiology
Health Risk
RS1569484166
Likely pathogenic
Abnormal aortic valve physiology, Abnormal aortic valve physiology
Health Risk
RS199474825
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial disease
Health Risk
RS2521961310
Likely pathogenic
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Health Risk
RS1569484164
Pathogenic
Tetralogy of Fallot, Tetralogy of Fallot
Health Risk
RS1569484169
Pathogenic
Abnormal mitral valve physiology, Abnormal mitral valve physiology
Health Risk
RS1569484177
Pathogenic
Abnormal mitral valve physiology, Abnormal mitral valve physiology
Health Risk
RS1569484178
Pathogenic
Abnormal mitral valve physiology, Abnormal mitral valve physiology
Health Risk
RS199474829
Pathogenic
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial disease
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1556423388 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial disease |
| RS1569484165 | Health Risk | Likely pathogenic | Abnormal aortic valve physiology, Abnormal aortic valve physiology |
| RS1569484166 | Health Risk | Likely pathogenic | Abnormal aortic valve physiology, Abnormal aortic valve physiology |
| RS199474825 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial disease |
| RS2521961310 | Health Risk | Likely pathogenic | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Mitochondrial myopathy with reversible cytochrome C oxidase deficiency |
| RS1569484164 | Health Risk | Pathogenic | Tetralogy of Fallot, Tetralogy of Fallot |
| RS1569484169 | Health Risk | Pathogenic | Abnormal mitral valve physiology, Abnormal mitral valve physiology |
| RS1569484177 | Health Risk | Pathogenic | Abnormal mitral valve physiology, Abnormal mitral valve physiology |
| RS1569484178 | Health Risk | Pathogenic | Abnormal mitral valve physiology, Abnormal mitral valve physiology |
| RS199474829 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial disease |