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  4. Recombinant Human Harmonin (USH1C)

Recombinant Human Harmonin (USH1C)

In Stock
  • 货号：
    CSB-EP896761HU
  • 规格：
    ￥1344
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    USH1C
  • Uniprot No.：
  • 别名：
    AIE 75; AIE75; Antigen NY CO 38/NY CO 37; Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy related antigen AIE 75; Autoimmune enteropathy related antigen AIE75; Autoimmune enteropathy-related antigen AIE-75; Deafness autosomal recessive 18; DFNB 18; DFNB18; Harmonin; NY CO 37; NY CO 38; PDZ 45; PDZ 73; PDZ 73 protein; PDZ 73/NY CO 38; PDZ45; PDZ73; PDZ73 protein; Protein PDZ-73; Renal carcinoma antigen NY REN 3; Renal carcinoma antigen NY-REN-3; USH 1C; USH1C; USH1C_HUMAN; Ush1cpst; Usher syndrome 1C (autosomal recessive severe); Usher syndrome 1C; Usher syndrome type 1C protein; Usher syndrome type-1C protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Isoform 4
  • 来源：
    E.coli
  • 分子量：
    76.3kDa
  • 表达区域：
    1-533aa
  • 氨基酸序列
    MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDGGTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-SUMO-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    3-7 business days
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Usher syndrome 1C (USH1C); Deafness, autosomal recessive, 18A (DFNB18A)
  • 亚细胞定位：
    Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell projection, microvillus.
  • 组织特异性：
    Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.
  • 数据库链接：

    HGNC: 12597

    OMIM: 276900

    KEGG: hsa:10083

    STRING: 9606.ENSP00000005226

    UniGene: Hs.502072