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MT-ATP6 - mitochondrially encoded ATP synthase membrane subunit 6
- Synonym(s) : ATP6, ATPase-6, mitochondrially encoded ATP synthase membrane subunit a, Su6m
- Previous symbols and names : ATP synthase 6, MTATP6, RP, mitochondrially encoded ATP synthase 6, spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit
- Type : gene with protein product
- Chromosomal location : mitochondria
- OMIM: 516060
- HGNC: 7414
- UniProtKB: P00846
- Genatlas: MT-ATP6
- GenCC: MT-ATP6
- Ensembl: ENSG00000198899
- IUPHAR-DB: 801
- Reactome: P00846
- LOVD: MT-ATP6
Diseases list
- Disease-causing germline mutation(s) in Familial infantile bilateral striatal necrosis
ORPHA:225154 
- Disease-causing germline mutation(s) in Isolated ATP synthase deficiency
ORPHA:254913 - Disease-causing germline mutation(s) in Leber hereditary optic neuropathy
ORPHA:104 - Disease-causing germline mutation(s) in Mitochondrial DNA-associated Leigh syndrome
ORPHA:255210 - Disease-causing germline mutation(s) in MT-ATP6-related mitochondrial spastic paraplegia
ORPHA:320360 - Disease-causing germline mutation(s) in NARP syndrome
ORPHA:644 - Disease-causing germline mutation(s) in Periodic paralysis with later-onset distal motor neuropathy
ORPHA:397750 - Candidate gene tested in NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
ORPHA:155
: AssessedAdditional information
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