DISEASES

Disease-gene associations mined from literature

Literature associating ATP1A2 and retinal vasculopathy with cerebral leukodystrophy

ATP1A2 [ENSP00000354490]

Sodium/potassium-transporting ATPase subunit alpha-2; 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; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.

Synonyms:  ATP1A2,  ATP1A2p,  hATP1A2,  A0A0S2Z3W6,  B1AKY9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM