Chloride intracellular channel protein 5

Definition:

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

References:

[1]. Celia Zazo Seco, et al. Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. Eur J Hum Genet. 2015 Feb;23(2):189-94. [Content Brief]

[2]. Binytha Wegner, et al. CLIC5A, a component of the ezrin-podocalyxin complex in glomeruli, is a determinant of podocyte integrity. Am J Physiol Renal Physiol. 2010 Jun;298(6):F1492-503. [Content Brief]

[3]. Mark Berryman, et al. CLIC-5A functions as a chloride channel in vitro and associates with the cortical actin cytoskeleton in vitro and in vivo. J Biol Chem. 2004 Aug 13;279(33):34794-801. [Content Brief]

[4]. H Singh, et al. Functional reconstitution of mammalian 'chloride intracellular channels' CLIC1, CLIC4 and CLIC5 reveals differential regulation by cytoskeletal actin. FEBS J. 2007 Dec;274(24):6306-16. [Content Brief]

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