MT-ATP8
Chr MTATP synthase F0 subunit 8
Also known as: ATPase8, MTATP8
ATP synthase F0 subunit 8 is a component of Complex V in the mitochondrial respiratory chain, essential for ATP synthesis through oxidative phosphorylation. Mutations cause cardiomyopathy and neuropathy, often occurring as part of single large mitochondrial deletions that also affect MT-ATP6. Inheritance is maternal through mitochondrial DNA, and clinical severity depends on the degree of heteroplasmy.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
Constraint data not available from gnomAD.
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
114 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 13 |
Likely Pathogenic | — | — | — | — | 5 |
VUS | — | — | — | — | 34 |
Likely Benign | — | — | — | — | 24 |
Benign | — | — | — | — | 37 |
| Total | — | 113 | |||
Counts from ClinVar esearch · Updated hourly
View 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.
3D Protein StructureAlphaFold
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