基因名称：ATP1A1 （ATPase Na+/K+ transporting subunit alpha 1）
别名： CMT2DD,HOMGSMR2
基因ID：476
Chromosome(GRCh37) ：1 Start: 116914802 End: 116948069 Strand:
信号通路：
靶向药：
化疗药：
简介：该基因编码的蛋白属于p型阳离子转运atp酶家族，属于na+/k+-atp酶亚家族。na+/k+-atpase是一种完整的膜蛋白，负责建立和维持na和k离子在质膜上的电化学梯度。这些梯度对于渗透调节、各种有机和无机分子的钠耦合传输以及神经和肌肉的电兴奋性是必不可少的。这种酶由两个亚单位组成，一个大的催化亚单位（α）和一个小的糖蛋白亚单位（β）。na+/k+-atpase的催化亚基由多个基因编码。这个基因编码一个α1亚单位。已发现该基因编码不同亚型的多个转录变体。[由RefSeq提供，2009年5月]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 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
ATP1A1突变与药物：
