MT-ATP8

Chr MT

ATP synthase F0 subunit 8

Also known as: ATPase8, MTATP8

NCBI Gene: 4509ENSG00000228253UniProt: P03928

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]

Primary Disease Associations & Inheritance

UniProtMitochondrial complex V deficiency, mitochondrial 2
UniProtCardiomyopathy, infantile hypertrophic
113
ClinVar variants
18
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— MT-ATP8
🧬
Gene-Disease Validity (ClinGen)
mitochondrial disease · MTLimited

Limited evidence — not for standalone diagnostic reporting

📋
ClinVar Variants
18 Pathogenic / Likely Pathogenic· 34 VUS of 113 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

113 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13
Likely Pathogenic5
VUS34
Likely Benign24
Benign37
13
Pathogenic
5
Likely Pathogenic
34
VUS
24
Likely Benign
37
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
ATP SYNTHASE 8; MTATP8
MIM #516070 · *
📖
GeneReview available — MT-ATP8
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Autophagy deficiency abolishes liver mitochondrial DNA segregation.
Tostes K et al.·Autophagy
2022
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.
Carli S et al.·Neurology
2025Cohort
Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies.
Del Dotto V et al.·Int J Mol Sci
2024Review
Analysis of MT-ATP8 gene variants reported in patients by modeling in silico and in yeast model organism.
Panja C et al.·Sci Rep
2023Cohort
Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders.
Liu Z et al.·Ann Clin Transl Neurol
2025
Brexpiprazole augmentation and mitochondrial gene expression changes in major depressive disorder.
Kondo K et al.·J Psychopharmacol
2025
Lipid nanoparticle delivery of the CRISPR/Cas9 system directly into the mitochondria of cells carrying m.7778G>T mutation in MtDNA (mt-Atp8).
Norota K et al.·Sci Rep
2025
[Molecular bases of diseases caused by mutations in genes encoding subunits of ATP synthase].
Baranowska E et al.·Postepy Biochem
2018Review
Whole mitogenome sequencing uncovers a relation between mitochondrial heteroplasmy and leprosy severity.
de Souza FG et al.·Hum Genomics
2023
Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia.
Järviaho T et al.·Clin Genet
2018
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