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lüll From tonus to tonicity: physiology of CLC chloride channels Waldegger S; Jentsch TJJ Am Soc Nephrol 2000[Jul]; 11 (7): 1331-1339Chloride channels are involved in a multitude of physiologic processes ranging from basal cellular functions such as cell volume regulation and acidification of intracellular vesicles to more specialized mechanisms such as vectorial transepithelial transport and regulation of cellular excitability. This plethora of functions is accomplished by numerous functionally highly diverse chloride channels that are only partially identified at the molecular level. The CLC family of chloride channels comprises at present nine members in mammals that differ with respect to biophysical properties, cellular compartmentalization, and tissue distribution. Their common structural features include a predicted topology model with 10 to 12 transmembrane regions together with two C-terminal CBS domains. Loss of function mutations affecting three different members of the CLC channel family lead to three human inherited diseases : myotonia congenita, Dent's disease, and Bartter's syndrome. These diseases, together with the diabetes insipidus symptoms of a knockout mouse model, emphasize the physiologic relevance of this ion channel family.|Animals[MESH]|Bartter Syndrome/genetics[MESH]|Chloride Channels/chemistry/genetics/*physiology[MESH]|Diabetes Insipidus/genetics[MESH]|Humans[MESH]|Kidney Diseases/genetics[MESH]|Molecular Structure[MESH]|Mutation/physiology[MESH]|Myotonia/genetics[MESH] |