| Gene Symbol | ATP1A2 |
| Entrez Gene ID | 477 |
| Full Name | ATPase Na+/K+ transporting subunit alpha 2 |
| Synonyms | FHM2,MHP2 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]. |
| Disorder MIM: | |
| Disorder Html: | Migraine, familial hemiplegic, 2, 602481 (3); Alternating hemiplegia of childhood, 104290 (3); Migraine, familial basilar, 602481 (3) |
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