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    發布時間:2022-07-25 10:57 原文鏈接: ATP1B2基因突變與藥物因子介紹

    該基因編碼的蛋白屬于na+/k+和h+/k+atpaseβ鏈蛋白家族,屬于na+/k+atpase亞家族。na+/k+-atpase是一種完整的膜蛋白,負責建立和維持na和k離子在質膜上的電化學梯度。這些梯度對于滲透調節、各種有機和無機分子的鈉耦合傳輸以及神經和肌肉的電興奮性是必不可少的。這種酶由兩個亞單位組成,一個大的催化亞單位(α)和一個小的糖蛋白亞單位(β)。β亞單位通過組裝α/β異二聚體調節輸送到質膜的鈉泵數量。Na+/K+-ATPase糖蛋白亞基由多個基因編碼這個基因編碼一個β2亞單位。已經發現了兩個編碼不同亞型的轉錄變體。[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]

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