ATP1A2

Gene

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ATPase, Na⁺/K⁺ transporting, alpha 2 (+) polypeptide, also known as ATP1A2, is a protein which in humans is encoded by the ATP1A2 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 (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na⁺/K⁺-ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit.<ref name="entrez" />

Clinical significance

Mutations in ATP1A2 have been found to cause hemiplegic migraine and epilepsy in an autosomal dominant fashion, sometimes co-occurring in families. Additionally, it has been associated with an unusual form of migraine called alternating hemiplegia of childhood.

External links

• GeneReviews/NCBI/NIH/UW entry on Familial Hemiplegic Migraine
• Human ATP1A2 genome location and ATP1A2 gene details page in the UCSC Genome Browser.

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