[Role and function of voltage-gated chloride channels of the CIC family and their defects leading to genetic diseases].
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.
Dołowy
Krzysztof
K
Zakład Biofizyki, Szkoła Główna Gospodarstwa Wiejskiego w Warszawie. dolowy@delta.sggw.waw.pl
Bednarczyk
Piotr
P
Hordejuk
Renata
R
Dworakowska
Beata
B
Nurowska
Ewa
E
Jarzabek
Wanda
W
D000136:Acid-Base Equilibrium / Q000502:physiology; D000818:Animals; D001477:Bartter Syndrome / Q000235:genetics*; D018118:Chloride Channels / Q000235:genetics* / Q000378:metabolism*; D004563:Electrochemistry; D006801:Humans; D017136:Ion Transport / Q000502:physiology; D007669:Kidney Calculi / Q000235:genetics*; D008564:Membrane Potentials / Q000502:physiology; D009154:Mutation; D009224:Myotonia Congenita / Q000235:genetics*; D015388:Organelles / Q000378:metabolism
C086321:CLC-1 channel; D018118:Chloride Channels