|Application ||WB, IHC, E|
|Other Accession||NP_710142, 10083, 72088 (mouse), 308596 (rat)|
|Predicted||Mouse, Rat, Cow|
|Calculated MW||62211 Da|
|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||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-USH1C / Harmonin Antibody 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.
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. Yan J, et al. Proc Natl Acad Sci U S A, 2010 Mar 2. PMID 20142502.
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Jaijo T, et al. Invest Ophthalmol Vis Sci, 2010 Mar. PMID 19683999.
Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23. Pan L, et al. Proc Natl Acad Sci U S A, 2009 Apr 7. PMID 19297620.
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. Baux D, et al. Hum Mutat, 2008 Aug. PMID 18484607.
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