MT-ATP6

Chr MT

ATP synthase F0 subunit 6

Also known as: ATPase6, MTATP6

Enables proton channel activity. Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in proton motive force-driven mitochondrial ATP synthesis and proton transmembrane transport. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeuropathy, ataxia, and retinitis pigmentosa
UniProtLeber hereditary optic neuropathy
UniProtLeigh syndrome
UniProtMitochondrial infantile bilateral striatal necrosis

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · MTDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
0
Active trials
52
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — MT-ATP6
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Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MT-ATP6 · 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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