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- W799097388 abstract "Several members of the CLC family of proteins are voltage-gated, and this entire family is sometimes termed the voltage-gated family of Cl- channels (chloride channels). Bioinformatics screening of CLC channels suggests the existence of regions in the cytoplasmic carboxyl tail of these proteins that have the propensity to bind actin and possibly other cytoskeletal proteins. While the ClC-0, ClC-1, ClC-2, and ClC-Ka and -Kb branch of the CLC family are generally believed to be plasma membrane channels, the location of the others is controversial, being totally or partially confined to intracellular membranes under normal circumstances. The authors' recent analysis of the human CLCN7 promoter has identified several interesting consensus transcription-factor-binding sites. By mutation, their importance in the transcriptional regulation of this gene has been demonstrated. Transcription factor binding has been demonstrated, and the identification of these factors is under way. Mutations in CLC channels have now been associated with a number of diseases in both humans and other species. Myotonia, the best understood of the CLC diseases, is characterized by a peculiar muscle stiffness that is normally painless, an inability of the muscle to relax after a voluntary contraction. This is purely a muscle phenomenon and does not involve nerve dysfunction. It is sometimes accompanied by weakness, and the stiffness may improve after exercise. Genetic or pharmacological manipulation of the relevant Cl1 channels could treat CLC diseases or, conversely, mimicking some aspect of these diseases could point the way to therapies for other diseases." @default.
- W799097388 created "2016-06-24" @default.
- W799097388 creator A5009240396 @default.
- W799097388 creator A5015818561 @default.
- W799097388 creator A5040530739 @default.
- W799097388 creator A5061225503 @default.
- W799097388 date "2014-04-09" @default.
- W799097388 modified "2023-09-24" @default.
- W799097388 title "The CLC Family of Proteins: Chloride Transporters and Channels" @default.
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