Citations |
1. Ambrosini, A., D'Onofrio, M., Grieco, G. S., Di Mambro, A., Montagna, G., Fortini, D., Nicoletti, F., Nappi, G., Sances, G., Schoenen, J., Buzzi, M. G., Santorelli, F. M., Pierelli, F. Familial basilar migraine associated with a new mutation in the ATP1A2 gene. Neurology 65: 1826-1828, 2005. 2. Ashmore, L. J., Hrizo, S. L., Paul, S. M., Van Voorhies, W. A., Beitel, G. J., Palladino, M. J. Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity. Hum. Genet. 126: 431-447, 2009. 3. Bassi, M. T., Bresolin, N., Tonelli, A., Nazos, K., Crippa, F., Baschirotto, C., Zucca, C., Bersano, A., Dolcetta, D., Boneschi, F. M., Barone, V., Casari, G. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. J. Med. Genet. 41: 621-628, 2004. |
Application Details |
Western blot, 0.25-0.5 μg/ml, Mouse, Rat
Immunohistochemistry, 2-5 μg/ml, Human, Mouse, Rat
ELISA, 0.1-0.5 μg/ml, - |
Background |
Sodium/potassium-transporting ATPase subunit alpha-2 is a protein which in humans is encoded by the ATP1A2 gene. 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. |