MT-ATP6
Chr MTATP synthase F0 subunit 6
Also known as: ATPase6, MTATP6
This gene encodes ATP synthase F0 subunit 6, a component of Complex V that synthesizes ATP in the mitochondrial respiratory chain. Mutations cause NARP syndrome at 70-90% heteroplasmy levels, maternally inherited Leigh syndrome at >90% heteroplasmy, and Charcot-Marie-Tooth-like neuropathy, with phenotype severity strongly dependent on the degree of heteroplasmy. Inheritance is maternal through the mitochondrial genome.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
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
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.
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