CLIC5

Chloride intracellular channels are involved in chloride ion transport within various subcellular compartments. CLIC5 specifically associates with the cytoskeleton of placenta microvilli.[supplied by OMIM

chloride intracellular channel 5

Required for normal hearing (PubMed:24781754).

It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity).

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. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed:15184393, PubMed:18028448, PubMed:20335315).

Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens (By similarity).

Chloride transport Source: UniProtKB
Female pregnancy Source: ProtInc
Glutathione metabolic process Source: InterPro
Regulation of ion transmembrane transport Source: UniProtKB-KW
Response to stimulus Source: UniProtKB-KW
Sensory perception of sound Source: UniProtKB
Visual perception Source: UniProtKB-KW

Isoform 1: Cytoplasm; Cytoskeleton; Apical cell membrane; Cell cortex; Membrane. Associates with the cortical actin cytoskeleton (PubMed:10793131, PubMed:15184393). Localizes to the apical region of cochlear hair cells, at the base of the actin-rich hair bundle (By similarity). Colocalizes with podocalyxin at the apical cell membrane in renal glomeruli (PubMed:20335315). May localize to the centrosome in lens epithelial cells (By similarity). Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity).
Isoform 2: Golgi apparatus; Centrosome. Colocalizes with AKAP9 at the Golgi apparatus as well as, to a lesser extent, the centrosome.

Deafness, autosomal recessive, 103 (DFNB103):
A form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia.

Helical: 193-213