ATP1A3
Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene.Function
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+-ATPases. Na+/K+-ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit and a smaller glycoprotein subunit. The catalytic subunit of Na+/K+-ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit.Clinical significance
Disease causing variants of the ATP1A3 gene are known to cause a variety of movement disorders and epilepsies. The known associations include a variety of syndromes:
1) Alternating hemiplegia of childhood
2) Rapid onset dystonia-parkinsonism
3) Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss
4) Developmental and epileptic encephalopathy
5) Fever induced paroxysmal weakness and encephalopathy
6) Recurrent episodes of cerebellar ataxia
7) Very early-onset schizophrenia
In mice, mutations in this gene are associated with epilepsy. By manipulating this gene in the offspring of such mice, epilepsy can be avoided.
