Channelopathy

Common card · No. 478449

Channelopathies are a group of diseases caused by the dysfunction of ion channel subunits or their interacting proteins. These diseases can be inherited or acquired by other disorders, drugs, or toxins. Mutations in genes encoding ion channels, which impair channel function, are the most common cause of channelopathies. There are more than 400 genes that encode ion channels, found in all human cell types and are involved in almost all physiological processes. Channels are typically formed as complexes of several individual, often identical or homologous, proteins. Depending on the type and location of the mutation, it may lead to (partial) loss of function, affect gating, conductance, ion selectivity, or signal transduction of the channel. Gain of function variants in channels are also associated with several diseases, and a key target for knockdown genetic therapies. Channelopathies can be categorized based on the organ system which they are associated with. In the cardiovascular system...

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