MT-CO3

Chr MT

cytochrome c oxidase subunit III

Also known as: COIII, MTCO3

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeber hereditary optic neuropathy
UniProtMitochondrial complex IV deficiency
UniProtRecurrent myoglobinuria mitochondrial

Clinical highlights

Gene-disease validity (ClinGen)
Leigh syndrome · MTLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total
0
Active trials
24
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — MT-CO3
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-CO3 · 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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