The voltage-gated sodium (NaV ) channel is required for cardiomyocyte function. In heart, its major, pore-forming, α-subunit is NaV 1.5, encoded by SCN5A, which maps to chromosome 3p21. The NaV channel plays a key role in myocardial excitability, since it is responsible for generating the rising phase of the cardiac action potential. NaV 1.5 often shows alterations in inherited channelopathies causing cardiac arrhythmias. Two well-known arrhythmias in which pathogenic variants of NaV 1.5 are implicated are Brugada syndrome (BrS) and Long QT syndrome (LQTS) type 3 (LQT3), which are due, respectively, to loss- and gain-of-function of the channel1 .

中文翻译：

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遍在蛋白介导的NaV 1.5降解的改变可引起心律不齐。

心肌细胞功能需要电压门控钠（NaV）通道。在心脏中，其主要的成孔性α-亚基是NaV 1.5，由SCN5A编码，可映射到染色体3p21。NaV通道在心肌兴奋性中起关键作用，因为它负责产生心脏动作电位的上升阶段。NaV 1.5经常显示遗传性通道病的改变，导致心律不齐。涉及NaV 1.5的致病变异的两个众所周知的心律不齐是Brugada综合征（BrS）和Long QT综合征（LQTS）3型（LQT3），这分别是由于心律失常和功能获得所致。频道1。