MT-CO3 Chromosome MT
Mitochondrially encoded cytochrome c oxidase III
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What This Gene Does
Predicted to contribute to cytochrome-c oxidase activity. Involved in respiratory chain complex IV assembly. Located in mitochondrial membrane. Part of respiratory chain complex IV. Implicated in MELAS syndrome. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
"Mitochondrial complex IV: cytochrome c oxidase subunits|Mitochondrially encoded protein coding genes"
Locus Type
gene with protein product
Location
mitochondria
Ensembl
ENSG00000198938
Associated Conditions (8)
Abnormal aortic valve physiology
Mitochondrial complex IV deficiency
nuclear type 1
Mitochondrial complex IV deficiency with recurrent myoglobinuria
Mitochondrial disease
Leigh syndrome
Primary mitochondrial disorders
Tetralogy of Fallot
Key Variants
RS1569484292
Likely pathogenic
Abnormal aortic valve physiology, Abnormal aortic valve physiology
Health Risk
RS267606612
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency with recurrent myoglobinuria
Health Risk
RS267606613
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial disease
Health Risk
RS267606614
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS1569484288
Pathogenic
Tetralogy of Fallot, Tetralogy of Fallot
Health Risk
RS1569484299
Pathogenic
Tetralogy of Fallot, Tetralogy of Fallot
Health Risk
RS1569484300
Pathogenic
Abnormal aortic valve physiology, Abnormal aortic valve physiology
Health Risk
RS1569484301
Pathogenic
Tetralogy of Fallot, Tetralogy of Fallot
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1569484292 | Health Risk | Likely pathogenic | Abnormal aortic valve physiology, Abnormal aortic valve physiology |
| RS267606612 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency with recurrent myoglobinuria |
| RS267606613 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial disease |
| RS267606614 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS1569484288 | Health Risk | Pathogenic | Tetralogy of Fallot, Tetralogy of Fallot |
| RS1569484299 | Health Risk | Pathogenic | Tetralogy of Fallot, Tetralogy of Fallot |
| RS1569484300 | Health Risk | Pathogenic | Abnormal aortic valve physiology, Abnormal aortic valve physiology |
| RS1569484301 | Health Risk | Pathogenic | Tetralogy of Fallot, Tetralogy of Fallot |