Article
Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.
American journal of physiology. Cell physiology - 1 Aug 2021
Biondo Elisa D, Spontarelli Kerri, Ababioh Giovanna, Méndez Lois, Artigas Pablo
Abstract excerpt
Human cell survival requires function of the Na+/K+ pump; the heteromeric protein that hydrolyzes ATP to extrude Na+ and import K+ across the plasmalemma, thereby building and maintaining these ions' electrochemical gradients. Numerous dominant diseases caused by mutations in genes encoding for Na+/K+ pump catalytic (α) subunit isoforms highlight the importance of this protein. Here, we review literature...
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