ATP1A3
Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene.[5][6]
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 (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+-ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit.[6] ATP1A3 is expressed early in human development, likely underlying pathophysiology related to several ATP1A3 related diseases.[7]
Clinical significance
Disease causing variants of the ATP1A3 gene are known to cause a variety of movement disorders and epilepsies.[8] The known associations include a variety of syndromes, in approximate order of presentation:
- Malformation of Cortex Development, including polymicrogyria;[7]
- Developmental and epileptic encephalopathy 99 (DEE99);[9]
- Alternating hemiplegia of childhood 2 (AHC2);[10]
- Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS/CAOS syndrome);
- Very early-onset schizophrenia;[11]
- Rapid-onset dystonia parkinsonism (RDP, also known as DYT12);
- Fever-induced paroxysmal weakness and encephalopathy (FIPWE);
- Recurrent episodes of cerebellar ataxia (RECA).
In mice, mutations in this gene are associated with epilepsy. By manipulating this gene in the offspring of such mice, epilepsy can be avoided.[12]
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