CLCN4 Proteins

Protein Information

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 disorder characterized by muscle stiffness and renal salt wasting. CLC-2 is highly expressed in the epithelia of several organs including lung, which suggests CLC-2 may be a possible therapeutic target for cystic fibrosis. CLC-3 expression is particularly abundant in neuronal tissue, while CLC-4 expression is evident in skeletal and cardiac muscle as well as brain.

Synonyms

chloride channel 4; chloride channel 4-2; chloride channel protein 4; chloride channel, voltage-sensitive 4; chloride transporter ClC-4; chloride voltage-gated channel 4; CLC 4; CLC4; clC-4; Clc4-2; ClC-4A; Clcn4; Clcn4-2; H(+)/Cl(-) exchange transporter 4; MGC163150; putative chloride channel (similar to Mm Clcn4-2); putative chloride channel 4-2