USH1C Antibody

Code CSB-PA025684GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
Alternative Names
AIE 75 antibody; AIE75 antibody; Antigen NY CO 38/NY CO 37 antibody; Antigen NY-CO-38/NY-CO-37 antibody; Autoimmune enteropathy related antigen AIE 75 antibody; Autoimmune enteropathy related antigen AIE75 antibody; Autoimmune enteropathy-related antigen AIE-75 antibody; Deafness autosomal recessive 18 antibody; DFNB 18 antibody; DFNB18 antibody; Harmonin antibody; NY CO 37 antibody; NY CO 38 antibody; PDZ 45 antibody; PDZ 73 antibody; PDZ 73 protein antibody; PDZ 73/NY CO 38 antibody; PDZ45 antibody; PDZ73 antibody; PDZ73 protein antibody; Protein PDZ-73 antibody; Renal carcinoma antigen NY REN 3 antibody; Renal carcinoma antigen NY-REN-3 antibody; USH 1C antibody; USH1C antibody; USH1C_HUMAN antibody; Ush1cpst antibody; Usher syndrome 1C (autosomal recessive severe) antibody; Usher syndrome 1C antibody; Usher syndrome type 1C protein antibody; Usher syndrome type-1C protein antibody
Raised in
Species Reactivity
Human USH1C
Immunogen Species
Homo sapiens (Human)
Purification Method
Antigen Affinity Purified
It differs from different batches. Please contact us to confirm it.
PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
Troubleshooting and FAQs
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

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. 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.
Gene References into Functions
  1. Mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18. PMID: 12107438
  2. The structure of the Myo7b CMF/USH1C PDZ complex provides mechanistic explanations for >20 deafness-causing mutations in Myo7a CMF. Taken together, these findings suggest that binding to PDZ domains, such as those from USH1C, PDZD7, and Whirlin, is a common property of CMFs of Myo7a, Myo7b, and Myo15a. PMID: 28439001
  3. We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations, among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease. PMID: 27440999
  4. Harmonin can adopt two different structural states, 'open' and 'closed', as a result of the self-interaction between its domains. PMID: 28653419
  5. In summary, our studies provide novel insight into the functional relationship between USH1 and USH2 proteins in the cochlea and the retina as well as the disease mechanisms underlying USH1 and USH2. PMID: 28031293
  6. ANKS4B, and MYO7B form a stable ternary complex for anchoring microvilli tip-link cadherins PMID: 26812017
  7. harmonin and villin autoantibodies are sensitive and specific markers of IPEX, differentiate IPEX, including atypical cases, from other early childhood disorders associated with enteropathy PMID: 24250806
  8. We localized proteins encoded by the top two regulated genes, TBL1X and USH1C, using immunohistochemistry to placental stem and anchoring villi associated with active contractile function. PMID: 23665419
  9. Description of the spectrum of mutations in USHIC in 374 families with autosomal recessive, non-syndromic hearing loss from India. PMID: 24416283
  10. This is the first report of a mutation in a known USH1 gene that causes late onset rather than congenital sensorineural hearing loss. PMID: 23251578
  11. The data highlight the ability of ZFNs to induce targeted homologous recombination and mediate gene repair in USH. PMID: 22661463
  12. Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia PMID: 22879593
  13. Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1. PMID: 22219650
  14. We report a novel molecular cause of sector retinitis pigmentosa associated with hearing loss representing a new phenotype associated with mutations in the USH1C gene. PMID: 21487335
  15. Mutations in USH1C are responsible for 1.5% of Usher syndrome type I disease in patients of Spanish origin. PMID: 21203349
  16. Mutations in harmonin and Sans found in USH1 patients are shown to destabilize the complex formation of the two proteins PMID: 20142502
  17. USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population PMID: 11810303
  18. Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. PMID: 12136232
  19. the shaping of the hair bundle relies on a functional unit composed of myosin VIIa, harmonin b and cadherin 23 that is essential to ensure the cohesion of the stereocilia PMID: 12485990
  20. the instability of the USH1C mRNA is explained by the 216G-->A out-of-frame splice site mutation. PMID: 15578223
  21. The c.216G>A mutation within the USH1C gene has been linked to a founder effect within the French Canadian population of Quebec associated with deafblindness. PMID: 17407589
  22. The structures of the harmonin N-domain alone and in complex with the cadherin 23 internal peptide fragment uncovered the detailed binding mechanism of this interaction between harmonin and cadherin 23. PMID: 19297620
  23. Observational study of gene-disease association and genetic testing. (HuGE Navigator) PMID: 19683999

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Involvement in disease
Usher syndrome 1C (USH1C); Deafness, autosomal recessive, 18A (DFNB18A)
Subcellular Location
Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell projection, microvillus.
Tissue Specificity
Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.
Database Links

HGNC: 12597

OMIM: 276900

KEGG: hsa:10083

STRING: 9606.ENSP00000005226

UniGene: Hs.502072

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