Disease caused by mutations in NaV-β subunit genes

摘要

NaV-β subunits associate with the NaV-α or pore-forming subunit of the voltage-dependent sodium channel and play critical roles in channel expression, voltage dependence of the channel gating, cell adhesion, signal transduction, and channel pharmacology. Point mutations in the NaV-β subunits may result in abnormal sodium channel function or faulty interactions with other sodium channel interacting proteins and have been shown to be deleterious for human health. This article offers a systematic review of all diseases in which NaV-β subunits mutations have been implicated with emphasis in cardiac disorders.