8q4j

Structural highlights

Disease

CLIC5_HUMAN Autosomal recessive non-syndromic sensorineural deafness type DFNB. The disease is caused by mutations affecting the gene represented in this entry.

Function

CLIC5_HUMAN 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).[UniProtKB:Q8BXK9]^{[1] [2] [3] [4]}

References

1. ↑ Berryman M, Bruno J, Price J, Edwards JC. 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. doi: 10.1074/jbc.M402835200. Epub, 2004 Jun 7. PMID:15184393 doi:http://dx.doi.org/10.1074/jbc.M402835200
2. ↑ Singh H, Cousin MA, Ashley RH. 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. Epub 2007 Nov 19. PMID:18028448 doi:http://dx.doi.org/EJB6145
3. ↑ Wegner B, Al-Momany A, Kulak SC, Kozlowski K, Obeidat M, Jahroudi N, Paes J, Berryman M, Ballermann BJ. 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. doi:, 10.1152/ajprenal.00030.2010. Epub 2010 Mar 24. PMID:20335315 doi:http://dx.doi.org/10.1152/ajprenal.00030.2010
4. ↑ Seco CZ, Oonk AM, Dominguez-Ruiz M, Draaisma JM, Gandia M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M. Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. Eur J Hum Genet. 2015 Feb;23(2):189-94. doi: 10.1038/ejhg.2014.83. Epub 2014 Apr , 30. PMID:24781754 doi:http://dx.doi.org/10.1038/ejhg.2014.83