MT-ATP8

Chr MT

ATP synthase F0 subunit 8

Also known as: ATPase8, MTATP8

Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in multiple sclerosis and urinary bladder cancer. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex V deficiency, mitochondrial 2
UniProtCardiomyopathy, infantile hypertrophic

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · MTLimitednot for standalone diagnostic reporting
0
Active trials
18
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — MT-ATP8
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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-ATP8 · 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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