ATP1A3
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene.[1][2]
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.[2]
Clinical significance
Mutations in ATP1A3 are often seen in rapid-onset dystonia–parkinsonism (RDP) (also known as DYT12), and genetic testing is recommended in patients where this diagnosis is suspected.[citation needed]
In mice, mutations in this gene are associated with epilepsy. By manipulating this gene in the offspring of such mice, epilepsy can be avoided.[3]
This gene is the likely genetic cause of alternating hemiplegia of childhood.[4]
References
Further reading
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External links
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