USH1C Antibody(N-term)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application
| WB, E |
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Primary Accession | Q9Y6N9 |
Other Accession | Q9ES64, Q3MHQ0, NP_005700.2 |
Reactivity | Human, Mouse |
Predicted | Bovine |
Host | Rabbit |
Clonality | Polyclonal |
Isotype | Rabbit IgG |
Calculated MW | 62211 Da |
Antigen Region | 1-30 aa |
Gene ID | 10083 |
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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. |
Dilution | WB~~1:1000 |
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. |
Name | USH1C |
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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 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.
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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