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

Krzysztof Dołowy Piotr Bednarczyk Renata Hordejuk Beata Dworakowska Ewa Nurowska Wanda Jarzabek

Opublikowany: 2002-05-15

GICID: 01.3001.0000.3500

Dostępne wersje językowe: en

Wydanie: Postepy Hig Med Dosw 2002; 56 (3)

Abstrakt

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 in ClC-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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