Sodium/potassium-transporting ATPase subunit alpha-2 is a protein which in humans is encoded by the ATP1A2 gene. [5][6] The protein encoded by this gene belongs to the family of P-type …

2025年3月30日 · ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2) is a Protein Coding gene. Diseases associated with ATP1A2 include Migraine, Familial Hemiplegic, 2 and …

The ATP1A2 gene provides instructions for making one part (the alpha-2 subunit) of a protein known as a Na+/K+ ATPase. This protein uses energy from a molecule called adenosine …

2025年2月9日 · Data implicate ATP1A2 as a new hypokalaemic periodic paralysis gene and leak currents as a common pathomechanism of hypokalaemic periodic paralysis. The sporadic …

Strikingly diverse functional abnormalities have been identified for disease-linked ATP1A2 mutations which frequently lead to changes in the enzyme's voltage-dependent properties, …

Mutations in ATP1A2, the gene encoding the α2 subunit of Na+/K+-ATPase, are the main cause of familial hemiplegic migraine type 2 (FHM2). The clinical presentation of FHM2 with …

Na+/K+ -ATPase 是一种完整的膜蛋白，负责建立和维持 Na 和 K 离子跨质膜的电化学梯度。 这些梯度对于渗透调节、各种有机和无机分子的钠偶联转运以及神经和肌肉的电兴奋性至关重要。 …

具有多种功能，包括ATP结合活性；P型钠:钾交换转运子活性；和蛋白质异二聚体化活性。 参与多种过程，包括阳离子运输；细胞对机械刺激的响应；和对钙:钠抗泵活性的负调控。 位于几个 …

家系全外显子+线粒体环基因示ATP1A2 c.2143G>A（p.Gly715Arg），为新发错义变异，关联儿童散发性偏瘫性偏头痛（sporadic hemiplegic migraine，SHM）。 诊断：SHM，肥厚型心肌病。

ATP1A2 is predominantly expressed in neurons in neonates and in glial cells in adults (Moseley et al., 2003). In adults, an important function of this specific ATPase is to modulate the reuptake …