MT-ATP6

mitochondrially encoded ATP synthase membrane subunit 6

Details

HGNC: 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"

Associated Studies

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, Josef; Fiorini, Ana C.; Scorza, Fulvio A.; Scorza, Carla A.

Associated cohorts

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

Transcriptional reprogramming primes CD8+ T cells toward exhaustion in Myalgic encephalomyelitis/chronic fatigue syndrome

2024 | Iu, David S.; Maya, Jessica; Vu, Luyen T.; Fogarty, Elizabeth A.; McNairn, Adrian J.; Ahmed, Faraz; Franconi, Carl J.; Munn, Paul R.; Grenier, Jennifer K.; Hanson, Maureen R.; Grimson, Andrew

Associated cohorts

Phenotype: ME/CFS, ME/CFS - CCC criteria, ME/CFS - IOM (Institute of Medicine) 2015 criteria, Post-exertional malaise (PEM)