From molecule to malady.
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.
Ashcroft
Frances M
FM
University Laboratory of Physiology, Parks Road, Oxford OX1 3PT, UK. frances.ashcroft@physiol.ox.ac.uk
D000818:Animals; D030342:Genetic Diseases, Inborn; D006801:Humans; D015640:Ion Channel Gating; D007473:Ion Channels / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D011487:Protein Conformation; D021122:Protein Subunits / Q000737:chemistry
D007473:Ion Channels; D021122:Protein Subunits