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ATP1A3 - ATPase Na+/K+ transporting subunit alpha 3
- Synonym(s) : sodium-potassium ATPase catalytic subunit alpha-3, sodium/potassium-transporting ATPase subunit alpha-3, sodium pump subunit alpha-3
- Previous symbols and names : ATPase, Na+/K+ transporting, alpha 3 polypeptide, DYT12, dystonia 12
- Type : gene with protein product
- Chromosomal location : 19q13.2
- OMIM: 182350
- HGNC: 801
- UniProtKB: P13637
- Genatlas: ATP1A3
- GenCC: ATP1A3
- Ensembl: ENSG00000105409
- IUPHAR-DB: 835
- Reactome: P13637
- LOVD: ATP1A3
Diseases list
- Disease-causing germline mutation(s) in Alternating hemiplegia of childhood
ORPHA:2131 
- Disease-causing germline mutation(s) in Non-specific early-onset epileptic encephalopathy
ORPHA:442835 - Disease-causing germline mutation(s) in Rapid-onset dystonia-parkinsonism
ORPHA:71517 - Disease-causing germline mutation(s) (gain of function) in Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
ORPHA:1171
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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