CLCN4 Proteins and Enzymes

The family of voltage-dependent chloride channels (CLCs) regulate cellular trafficking of chloride ions, a critical component of all living cells. CLCs regulate excitability in muscle and nerve cells, aid in organic solute transport and maintain cellular volume. The genes encoding human CLC-1 through CLC-7 map to chromosomes 7, 3q26, 4q32, Xp22, Xp11, 1p36 and 16p13, respectively. CLC-1 is highly expressed in skeletal muscle. Mutations in the gene encoding CLC-1 lead to myotonia, an inheritable ...