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Ion channels are membrane proteins, found in virtually all cells, that are of crucial physiological importance. In the past decade, an explosion in the number of crystal structures of ion channels has led to a marked increase in our understanding of how ion channels open and close, and select between permeant ions. There has been a parallel advance in research on channelopathies (diseases resulting from impaired channel function), and mutations in over 60 ion-channel genes are now known to cause human disease. Characterization of their functional consequences has afforded unprecedented and unexpected insights into ion-channel mechanisms and physiological roles.

Original publication

DOI

10.1038/nature04707

Type

Journal article

Journal

Nature

Publication Date

23/03/2006

Volume

440

Pages

440 - 447

Keywords

Animals, Genetic Diseases, Inborn, Humans, Ion Channel Gating, Ion Channels, Mutation, Protein Conformation, Protein Subunits