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MT-ATP8 - mitochondrially encoded ATP synthase membrane subunit 8
- Synonym(s) : A6L, ATP8, mitochondrially encoded ATP synthase membrane subunit A6L
- Previous symbols and names : ATP synthase 8, MTATP8, mitochondrially encoded ATP synthase 8
- Type : gene with protein product
- Chromosomal location : mitochondria
- OMIM: 516070
- HGNC: 7415
- UniProtKB: P03928
- Genatlas: MT-ATP8
- Ensembl: ENSG00000228253
- IUPHAR-DB: -
- Reactome: P03928
- LOVD: MT-ATP8
Diseases list
- Disease-causing germline mutation(s) in Isolated ATP synthase deficiency
ORPHA:254913 
- Disease-causing germline mutation(s) in Periodic paralysis with later-onset distal motor neuropathy
ORPHA:397750 - Candidate gene tested in Kearns-Sayre syndrome
ORPHA:480
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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