菜单 基因医生

钾通道存在于大多数哺乳动物细胞中，它们参与了广泛的生理反应该基因编码的蛋白是一个完整的膜蛋白和内向整流型钾通道编码的蛋白质受g蛋白控制，在调节心跳中起着重要作用，这种蛋白质更倾向于让钾流入细胞而不是流出细胞。它与其他三个g蛋白激活的钾通道结合，形成一个异多聚成孔复合物，该复合物还与大脑中的神经递质受体结合，通道激活可通过超极化质膜抑制动作电位发射。这些多聚蛋白G-蛋白门控内向整流钾通道（GEKK）可能在癫痫、成瘾、唐氏综合征、共济失调和帕金森病的病理生理学中起作用。选择性剪接导致编码不同蛋白质的多个转录变体[由RefSeq提供，2012年5月]
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]