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The role and the function of voltage-gated chloride channels of the ClC family and its defects leading to genetic diseases

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Dolowy K., Bednarczyk P., Hordejuk R., Dworakowska B., Nurowska E., Jarzabek W.
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issue 3
307-313
EN
There are 9 channels of the ClC family in mammals and few others in fishes, plants, yeast and bacteria. The ClC channels are present in different tissues and play a role in transmembrane potential stabilization, transepithelial transport, cell volume regulation, acidification of intracellular organelles. The genetic defects of ClC-1 chloride channel lead to myotonias, the defect inClC-5 channel to the formation of stones in kidney, while the defect in ClC-Kb channel leads to the Bartter?s syndrome
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