ATP1A3

Sodium/potassium-transporting ATPase subunit alpha-3 is an is_associated_with::enzyme that in humans is encoded by the ATP1A3 is_associated_with::gene.

Function
The is_associated_with::protein encoded by this gene belongs to the family of P-type cation transport is_associated_with::ATPases, and to the subfamily of Na+/K+-ATPases. Na+/K+-ATPase is an integral is_associated_with::membrane protein responsible for establishing and maintaining the is_associated_with::electrochemical gradients of Na and K ions across the is_associated_with::plasma membrane. These gradients are essential for is_associated_with::osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of is_associated_with::nerve and is_associated_with::muscle. This is_associated_with::enzyme is composed of two subunits, a large is_associated_with::catalytic subunit (alpha) and a smaller is_associated_with::glycoprotein subunit (beta). The catalytic subunit of Na+/K+-ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit.

Clinical significance
Mutations in ATP1A3 are often seen in rapid-onset dystonia–is_associated_with::parkinsonism (RDP) (also known as DYT12), and genetic testing is recommended in patients where this diagnosis is suspected.

In mice, mutations in this gene are associated with is_associated_with::epilepsy. By manipulating this gene in the offspring of such mice, epilepsy can be avoided.

This gene is the likely genetic cause of is_associated_with::alternating hemiplegia of childhood.