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USH1C Antibody(N-term) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | Q9Y6N9 |
|---|---|
| Clone Names | 90415027 |
| Gene ID | 10083 |
|---|---|
| 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 | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| 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. |
| Name | USH1C |
|---|---|
| Synonyms | AIE75 |
| Function | 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 development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018). |
| Cellular Location | Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell projection, microvillus Note=Colocalizes with F-actin (By similarity). Detected at the tip of cochlear hair cell stereocilia (By similarity). Enriched in microvilli of the intestinal brush border (PubMed:24725409, PubMed:32209652) {ECO:0000250|UniProtKB:Q9ES64, ECO:0000269|PubMed:24725409, ECO:0000269|PubMed:32209652} |
| 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.
Background
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.
References
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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