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Beschreibung

Sodium/potassium-transporting ATPase subunit alpha-2 (EC 3.6.3.9, UniProt P06686, also known as Na+/K+ -ATPase alpha 2 subunit, Na(+)/K(+) ATPase alpha(+) subunit, Sodium pump subunit alpha-2) is encoded by the Atp1a2 (also known as RATATPA2) gene (Gene ID 24212) in rat. Mammalian Na+/K+ ATPase is a heteromultimeric complex composed of alpha, beta, and gamma subunits. The alpha subunit catalyzes the hydrolysis of ATP coupled with the exchange of Na+ and K+ across the plasma membrane. The alpha subunit contains ten transmembrane domains with both its N- and C-termini in the cytoplasm. More than 50 mutations have been identified affecting the human ATP1A2 and ATP1A3 genes that are known to cause rapid-onset Dystonia Parkinsonism, familial hemiplegic migraine, alternating hemiplegia of childhood, and variants of familial hemiplegic migraine with neurological complications including seizures and various mood disorders.