MT-CO2

Chr MT

cytochrome c oxidase subunit II

Also known as: COII, MTCO2

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex IV deficiency

Clinical highlights

Gene-disease validity (ClinGen)
Leigh syndrome · MTLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total
0
Active trials
33
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — MT-CO2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MT-CO2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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