菜单 基因医生

该基因编码的蛋白属于na+/k+和h+/k+atpaseβ链蛋白家族,属于na+/k+atpase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)。β亚单位通过组装α/β异二聚体调节输送到质膜的钠泵数量。Na+/K+-ATPase糖蛋白亚基由多个基因编码这个基因编码一个β2亚单位。已经发现了两个编码不同亚型的转录变体。[由RefSeq提供,2014年12月]
The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

基因名:ATP1B2
别名:AMOG
基因ID:482
Chromosome:
(GRCh37)
17 Start: 7554254 End: 7561089 Strand: 
信号通路:  
ATP1B2 基因突变与药物