Background information
Chloride channels (CLCs) regulate cellular traffic of chloride ions, a critical component of all living cells. CLCs are involved in membrane potential stabilization, signal transduction, cell volume regulation and organic solute transport. The putative 247 amino acid protein chloride intracellular channel 2 (CLIC2), also designated XAP121, shares 60% identity with the CLIC1 protein and demonstrates expression in only fetal liver and adult skeletal muscle tissues. The CLIC2 gene maps to chromosome Xq28 and contains 6 exons. Because a direct association exists between a number of human chloride channel genes and a range of hereditary diseases, CLIC2 is a potential candidate for one of the many diseases linked to Xq28. The hereditary form of incontinentia pigmenti (IP2), for example, is a rare disorder characterized by abnormalities of the tissues and organs derived from the ectoderm and neuroectoderm that has been linked to Xq28
