ATP1A3 — ATPase Na+/K+ transporting subunit alpha 3 | MEDLIB

gene with protein productOMIM: 1823504 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3

Alternating hemiplegia of childhoodORPHA:2131

Non-specific early-onset epileptic encephalopathyORPHA:442835

Rapid-onset dystonia-parkinsonismORPHA:71517

Disease-causing germline mutation(s) (gain of function) in1

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndromeORPHA:1171

gene with protein productOMIM: 1823504 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3

Alternating hemiplegia of childhoodORPHA:2131

Non-specific early-onset epileptic encephalopathyORPHA:442835

Rapid-onset dystonia-parkinsonismORPHA:71517

Disease-causing germline mutation(s) (gain of function) in1

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndromeORPHA:1171