MT-CO1
Chr MTARcytochrome c oxidase subunit I
Also known as: COI, MTCO1
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]
Primary Disease Associations & Inheritance
Mitochondrial complex IV deficiency, nuclear type 24MIM #621431
AR
Mitochondrial complex IV deficiency, nuclear type 24MIM #621431
AR
UniProtLeber hereditary optic neuropathy
UniProtRecurrent myoglobinuria mitochondrial
UniProtDeafness, sensorineural, mitochondrial
UniProtColorectal cancer
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MT-CO1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools