|Application ||WB, E|
|Other Accession||Q9ES64, Q3MHQ0, NP_005700.2|
|Calculated MW||62211 Da|
|Antigen Region||1-30 aa|
|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|
|Target/Specificity||This USH1C antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 1-30 amino acids from the N-terminal region of human USH1C.|
|Format||Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.|
|Storage||Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||USH1C Antibody(N-term) is for research use only and 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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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding 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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