Clic5 encodes a protein that is required for normal hearing and is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti. Clic5 can insert into membranes and form poorly selective ion channels that may also transport chloride ions. Clic5 may play a role in the regulation of transepithelial ion absorption and secretion, and is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture. The Clic5 gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The protein encoded by Clic5 associates with actin-based cytoskeletal structures and may also play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for the Clic5 gene. Diseases associated with CLIC5 include Deafness, Autosomal Recessive 103 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb.
Chloride intracellular channel protein 5