ATP1A2(redirected from OTTHUMP000000298802)
ATP1A2A gene on chromosome 1q21-q23 that encodes an alpha 2 (catalytic) subunit of the family of P-type cation transport ATPases and subfamily of Na+/K+ -ATPases. These Na+/K+ -ATPases are heterodimers composed of a large alpha subunit and a smaller beta subunit, and are responsible for establishing and maintaining the electrochemical gradients of Na and K ions across plasma membranes. These electrochemical gradients are required for osmoregulation, sodium-coupled transport of various organic and inorganic molecules and electrical excitability of nerve and muscle.
ATP1A2 mutations are linked to familial basilar or hemiplegic migraines, and alternating hemiplegia of childhood.