Alpha 3 Na⁺/K⁺ ATPase (ATP1A3) subunit is responsible for maintaining the electrochemical gradients of Na⁺ and K⁺ across the plasma membrane. A low intracellular Na⁺ concentration in eukaryotic cells is maintained by the Na⁺/K⁺ ATPase protein. Na⁺/K⁺ ATPase exports three sodium ions for every two potassium ions imported^1-3.

In most cells, Na⁺/K⁺ ATPase is distributed along the plasma membrane, whereas in epithelia the distribution is polarized in patterns specific to the type of epithelium. In the central nervous system (CNS), the α3 Na⁺/K⁺ ATPase isoform is expressed in neurons^1,3.

The establishment of an electrochemical gradient for Na⁺ and K⁺ across the plasma membrane is vital for cell function, it determines cell resting membrane potentials and supports the electrical activity of excitable cells.  

Autosomal dominant mutations of the human gene are related to a wide spectrum of clinical conditions, including several defined syndromes such as rapid-onset dystonia-parkinsonism, hyperactivity, epileptic seizures, optic atrophy, and sensorineural hearing loss^2,3.