CLCN6 antibody

Background of CLCN6 antibody

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. Mutations in the gene encoding CLC-5 lead to Dent’s disease, a renal disorder characterized by proteinuria and hypercalciuria. CLC-6 and CLC-7 are broadly expressed in several tissues including testes, kidney, brain and muscle.