功能This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients.
疾病相关Defects in ATP1A2 are the cause of migraine familial hemiplegic type 2 (FHM2) [MIM:602481]. FHM2 is a rare, severe, autosomal dominant subtype of migraine characterized by aura and some hemiparesis. Defects in ATP1A2 are a cause of alternating hemiplegia of childhood (AHC) [MIM:104290]. AHC is typically distinguished from familial hemiplegic migraine by infantile onset of the symptoms and high prevalence of associated neurological deficits that become increasingly obvious with age.
序列相似性Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.