|Other Names||Harmonin, Antigen NY-CO-38/NY-CO-37, Autoimmune enteropathy-related antigen AIE-75, Protein PDZ-73, Renal carcinoma antigen NY-REN-3, Usher syndrome type-1C protein, USH1C, AIE75|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing (By similarity).|
|Cellular Location||Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Note=Colocalizes with F-actin (By similarity). Detected at the tip of cochlear hair cell stereocilia.|
|Tissue Location||Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.|
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This gene encodes a scaffold protein that functions in theassembly of Usher protein complexes. The protein contains PDZdomains, a coiled-coil region with a bipartite nuclear localizationsignal and a PEST degradation sequence. Defects in this gene arethe cause of Usher syndrome type 1C and non-syndromic sensorineuraldeafness autosomal recessive type 18. Multiple transcript variantsencoding different isoforms have been found for this gene.
Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :Yan, J., et al. Proc. Natl. Acad. Sci. U.S.A. 107(9):4040-4045(2010)Jaijo, T., et al. Invest. Ophthalmol. Vis. Sci. 51(3):1311-1317(2010)Pan, L., et al. Proc. Natl. Acad. Sci. U.S.A. 106(14):5575-5580(2009)Baux, D., et al. Hum. Mutat. 29 (8), E76-E87 (2008) :
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