导航1.5
神经科学
细胞生物学
计算生物学
离子通道病
化学
生物
钠通道
生物信息学
功能(生物学)
医学
有机化学
钠
作者
Nicola Detta,Giulia Frisso,Francesco Salvatore
标识
DOI:10.1016/j.bbapap.2015.07.009
摘要
The aim of this mini-review is to draw together the main concepts and findings that have emerged from recent studies of the cardiac channel protein Nav1.5. This complex protein is encoded by the SCN5A gene that, in its mutated form, is implicated in various diseases, particularly channelopathies, specifically at cardiac tissue level. Here we describe the structural, and functional aspects of Nav1.5 including post-translational modifications in normal conditions, and the main human channelopathies in which this protein may be the cause or trigger. Lastly, we also briefly discuss interacting proteins that are relevant for these channel functions in normal and disease conditions.
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