MT-ATP6

mitochondrially encoded ATP synthase membrane subunit 6

Associated Studies

Systematic Examination of Gene Expression and Proteomic Evidence Across Tissues Supports the Role of Mitochondrial Dysregulation in ME/CFS

2026 | Keele et al.

Phenotype: ME/CFS

mtDNA deletion m.8753_16566 with < 10 % heteroplasmy in muscle and isolated complex-V dysfunction misinterpreted as chronic fatigue syndrome over 21-years

2025 | Finsterer et al.

Phenotype: ME/CFS, Post-exertional malaise (PEM)

Metabolic adaptation and fragility in healthy 3D in vitro skeletal muscle tissues exposed to chronic fatigue syndrome and Long COVID-19 sera

2025 | Mughal et al.

Phenotype: ME/CFS, ME/CFS - International Consensus Criteria (ICC), Post-exertional malaise (PEM)

Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein–Barr Virus

2024 | Tang-Siegel et al.

Phenotype: ME/CFS, ME/CFS - Fukuda 1994 (CDC) Criteria, Post-exertional malaise (PEM)

Details

HGNC: 7414

GeneCards: MT-ATP6

NCBI: 4508

Ensembl: ENSG00000198899

UniProt: P00846

OMIM: 516060

UCSC: uc064xpf.1

VEGA: None

ENA: None

Alias Symbols: ATP6, ATPase-6, Su6m

Previous Symbols: MTATP6, RP

Alias Names: "mitochondrially encoded ATP synthase membrane subunit a"

Previous Names: "ATP synthase 6", "spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit", "mitochondrially encoded ATP synthase 6"