CLIC5 Antibody – Mouse Monoclonal

This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may 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 this gene. [provided by RefSeq, Dec 2011]

CLIC5: Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Required for normal formation of stereocilia in the inner ear and normal development of the organ of Corti. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture. Belongs to the chloride channel CLIC family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Membrane protein, integral

Chromosomal Location of Human Ortholog: 6p12.3

Cellular Component: Golgi apparatus; stereocilium; microtubule organizing center; cell cortex; actin cytoskeleton

Molecular Function: protein binding; chloride channel activity; voltage-gated ion channel activity

Biological Process: diet induced thermogenesis; protein localization; sensory perception of sound; transport; chloride transport; auditory receptor cell stereocilium organization and biogenesis; female pregnancy; neuromuscular process controlling balance

Disease: Deafness, Autosomal Recessive 103