MT-CO1 Chromosome MT
Mitochondrially encoded cytochrome c oxidase I
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What This Gene Does
Contributes to cytochrome-c oxidase activity. Predicted to be involved in aerobic respiration; positive regulation of vasoconstriction; and respiratory electron transport chain. Located in mitochondrial membrane. Part of respiratory chain complex IV. [provided by Alliance of Genome Resources, Jul 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
ENSG00000198804
Associated Conditions (10)
Mitochondrial complex IV deficiency
nuclear type 1
Leigh syndrome
Mitochondrial disease
Abnormal mitral valve physiology
Abnormal aortic valve physiology
Tetralogy of Fallot
Myoglobinuria
recurrent
Familial colorectal cancer
Key Variants
RS199476128
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome
Health Risk
RS1569484096
Likely pathogenic
Abnormal mitral valve physiology, Abnormal mitral valve physiology
Health Risk
RS1569484114
Likely pathogenic
Abnormal aortic valve physiology, Abnormal aortic valve physiology
Health Risk
RS1569484120
Likely pathogenic
Tetralogy of Fallot, Tetralogy of Fallot
Health Risk
RS1569484123
Likely pathogenic
Abnormal aortic valve physiology, Abnormal aortic valve physiology
Health Risk
RS199476129
Likely pathogenic
Myoglobinuria, recurrent, Mitochondrial disease
Health Risk
RS28679680
Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial disease
Health Risk
RS1569484042
Pathogenic
Tetralogy of Fallot, Tetralogy of Fallot
Health Risk
RS1569484091
Pathogenic
Abnormal mitral valve physiology, Abnormal mitral valve physiology
Health Risk
RS1569484098
Pathogenic
Abnormal mitral valve physiology, Abnormal mitral valve physiology
Health Risk
RS1569484100
Pathogenic
Abnormal mitral valve physiology, Abnormal mitral valve physiology
Health Risk
RS1569484104
Pathogenic
Abnormal aortic valve physiology, Abnormal aortic valve physiology
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199476128 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Leigh syndrome |
| RS1569484096 | Health Risk | Likely pathogenic | Abnormal mitral valve physiology, Abnormal mitral valve physiology |
| RS1569484114 | Health Risk | Likely pathogenic | Abnormal aortic valve physiology, Abnormal aortic valve physiology |
| RS1569484120 | Health Risk | Likely pathogenic | Tetralogy of Fallot, Tetralogy of Fallot |
| RS1569484123 | Health Risk | Likely pathogenic | Abnormal aortic valve physiology, Abnormal aortic valve physiology |
| RS199476129 | Health Risk | Likely pathogenic | Myoglobinuria, recurrent, Mitochondrial disease |
| RS28679680 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial disease |
| RS1569484042 | Health Risk | Pathogenic | Tetralogy of Fallot, Tetralogy of Fallot |
| RS1569484091 | Health Risk | Pathogenic | Abnormal mitral valve physiology, Abnormal mitral valve physiology |
| RS1569484098 | Health Risk | Pathogenic | Abnormal mitral valve physiology, Abnormal mitral valve physiology |
| RS1569484100 | Health Risk | Pathogenic | Abnormal mitral valve physiology, Abnormal mitral valve physiology |
| RS1569484104 | Health Risk | Pathogenic | Abnormal aortic valve physiology, Abnormal aortic valve physiology |
| RS1569484107 | Health Risk | Pathogenic | Abnormal mitral valve physiology, Abnormal mitral valve physiology |
| RS1569484108 | Health Risk | Pathogenic | Abnormal mitral valve physiology, Abnormal mitral valve physiology |
| RS1569484115 | Health Risk | Pathogenic | Abnormal aortic valve physiology, Abnormal aortic valve physiology |
| RS1569484116 | Health Risk | Pathogenic | Abnormal aortic valve physiology, Abnormal aortic valve physiology |
| RS1569484122 | Health Risk | Pathogenic | Tetralogy of Fallot, Tetralogy of Fallot |
| RS1569484124 | Health Risk | Pathogenic | Tetralogy of Fallot, Abnormal aortic valve physiology, Tetralogy of Fallot |
| RS1569484125 | Health Risk | Pathogenic | Abnormal aortic valve physiology, Abnormal aortic valve physiology |
| RS1569484126 | Health Risk | Pathogenic | Tetralogy of Fallot, Tetralogy of Fallot |
| RS267606884 | Health Risk | Pathogenic | Familial colorectal cancer, Familial colorectal cancer |
| RS281865417 | Health Risk | Pathogenic | Familial colorectal cancer, Familial colorectal cancer |