Article
Erythromelalgia mutation Q875E Stabilizes the activated state of sodium channel Nav1.7.
The Journal of biological chemistry - 6 Mar 2015
Stadler Theresa, O'Reilly Andrias O, Lampert Angelika
Abstract excerpt
The human voltage-gated sodium channel Nav1.7 plays a crucial role in transmission of noxious stimuli. The inherited pain disorder erythromelalgia (IEM) has been linked to Nav1.7 gain-of-function mutations. Here we show that the IEM-associated Q875E mutation located on the pore module of Nav1.7 produces a large hyperpolarizing shift (-18 mV) in the voltage dependence of activation. Three-dimensional homology...
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