DISEASES

Disease-gene associations mined from literature

Literature associating ATP1A4 and alternating hemiplegia of childhood

ATP1A4 [ENSP00000357060]

Sodium/potassium-transporting ATPase subunit alpha-4; 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. Plays a role in sperm motility; ATPase Na+/K+ transporting subunits

Synonyms:  ATP1A4,  ATP1A4p,  hATP1A4,  E9PRA5,  Q13733 ...

Linkouts:  STRING  Pharos  UniProt  OMIM