MT-ATP6

Chr MT

ATP synthase F0 subunit 6

Also known as: ATPase6, MTATP6

NCBI Gene: 4508ENSG00000198899UniProt: P00846

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]

Primary Disease Associations & Inheritance

UniProtNeuropathy, ataxia, and retinitis pigmentosa
UniProtLeber hereditary optic neuropathy
UniProtLeigh syndrome
UniProtMitochondrial infantile bilateral striatal necrosis
339
ClinVar variants
31
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— MT-ATP6
📋
ClinVar Variants
31 Pathogenic / Likely Pathogenic· 120 VUS of 339 total submissions
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

339 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic12
VUS120
Likely Benign87
Benign92
Conflicting1
19
Pathogenic
12
Likely Pathogenic
120
VUS
87
Likely Benign
92
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————19
Likely Pathogenic
————12
VUS
————120
Likely Benign
————87
Benign
————92
Conflicting
—1
Total—331

Counts from ClinVar esearch · Updated hourly

View 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.

Gene2Phenotype Curations

MT-ATP6-related neuropathy, ataxia, retinitis pigmentosa syndrome

definitive
Mito.UndeterminedAltered Gene Product Structure
Eye
G2P ↗
missense variantinframe deletioninframe insertion

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

2 OMIM entries

OMIM
ATP SYNTHASE 6; MTATP6
MIM #516060 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Stenton SL et al.·Ann Neurol
2022Cohort
Mitochondrial Retinopathy.
Birtel J et al.·Ophthalmol Retina
2022
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Ganetzky RD et al.·Hum Mutat
2019Review
Precise modelling of mitochondrial diseases using optimized mitoBEs.
Zhang X et al.·Nature
2025Functional
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.
Carli S et al.·Neurology
2025Cohort
Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.
Na JH et al.·Acta Neurol Scand
2022
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
Ferreira T et al.·J Neurol
2024
Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.
Finsterer J·J Clin Neuromuscul Dis
2023
Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature.
Panwala TF et al.·Pediatr Neurol
2022Review
Diagnosis of hereditary ataxias: a real-world single center experience.
Meli A et al.·J Neurol
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools