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  • 發布時間:2022-07-18 15:53 原文鏈接: 絲裂原活化蛋白激酶相關信號通路介紹GRIN2A

    這個基因編碼谷氨酸門控離子通道蛋白家族的一個成員。編碼蛋白是n-甲基-d-天冬氨酸(nmda)受體亞單位。nmda受體既依賴于配體門控,又依賴于電壓,并參與長期增強,一種依賴于活動的突觸傳遞效率的提高,被認為是某種記憶和學習的基礎。這些受體對鈣離子具有滲透性,其激活導致鈣離子流入突觸后細胞,從而激活多個信號級聯。這種基因的破壞與局灶性癲癇和言語障礙有關,不論是否有認知障礙。選擇性剪接導致多個轉錄變體。[由RefSeq提供,2014年5月]
    This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

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