Gene Symbol | CLIC5 |
Entrez Gene ID | 53405 |
Full Name | chloride intracellular channel 5 |
Synonyms | DFNB102,DFNB103,MST130,MSTP130 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Deafness, autosomal recessive 103, 616042 (3) |