DISEASES

Disease-gene associations mined from literature

Literature associating ATP1A3 and cerebellar ataxia

ATP1A3 [ENSP00000444688]

Sodium/potassium-transporting ATPase subunit alpha-3; 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 ions, providing the energy for active transport of various nutrients; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.

Synonyms:  ATP1A3,  ATP1A3p,  hATP1A3,  ATP1A3-001,  ATP1A3-002 ...

Linkouts:  STRING  Pharos  UniProt