Abstract: ClC are chloride family proteins helping chloride ion transmembrane, which participated in a variety of physiological and pathological processes. Dysfunctional ClC protein induced by gene mutation could change the characters of channel gate and disturb chloride ion transmembrane, resulting in congenital myotonia, idiopathic epilepsy, Bartter's syndrome, Dent's disease, retina degeneration, osteopetrosis etc.

Key words: chloride ion, chloride ion channel, gene mutation