Gene Symbol | ATP1A3 |
Entrez Gene ID | 478 |
Full Name | ATPase Na+/K+ transporting subunit alpha 3 |
Synonyms | AHC2,ATP1A1,CAPOS,DYT12,RDP |
General protein information |
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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 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. |
Disorder MIM: | |
Disorder Html: | Dystonia-12, 128235 (3); Alternating hemiplegia of childhood 2, 614820 (3); CAPOS syndrome, 601338 (3) |