在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

USH1C Antibody

  • 中文名稱:
    USH1C兔多克隆抗體
  • 貨號(hào):
    CSB-PA025684GA01HU
  • 規(guī)格:
    ¥3,900
  • 其他:

產(chǎn)品詳情

  • Uniprot No.:
  • 基因名:
    USH1C
  • 別名:
    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
  • 宿主:
    Rabbit
  • 反應(yīng)種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human USH1C
  • 免疫原種屬:
    Homo sapiens (Human)
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity Purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式:
    Liquid
  • 應(yīng)用范圍:
    ELISA,WB,IHC
  • Protocols:
  • 儲(chǔ)存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    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.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 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.
  • 基因功能參考文獻(xiàn):
    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

    顯示更多

    收起更多

  • 相關(guān)疾病:
    Usher syndrome 1C (USH1C); Deafness, autosomal recessive, 18A (DFNB18A)
  • 亞細(xì)胞定位:
    Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell projection, microvillus.
  • 組織特異性:
    Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.
  • 數(shù)據(jù)庫(kù)鏈接:

    HGNC: 12597

    OMIM: 276900

    KEGG: hsa:10083

    STRING: 9606.ENSP00000005226

    UniGene: Hs.502072



主站蜘蛛池模板: 亚洲精品久久夜色撩人男男小说| 国产国产成人久久精品| 51福利国产在线观看午夜天堂| 亚洲五月综合缴情在线观看| 免费无码又爽又刺激高潮的app | 国产麻豆精品久久一二三| 新国产精品视频福利免费| 日本少妇xxxx做受| 欧美超级乱婬视频播放| 精品无码无人网站免费视频| 日韩人妻无码一区二区三区综合部 | 精品一区二区ww| 2020国产亚洲美女精品久久久| 欧美成人免费全部观看| 久久精品国产网红主播| 成品人视频ww入口| 亚洲日韩成人性av网站| 国产精品麻豆成人av网| 中国美女牲交视频| 国产精品涩涩涩视频网站| 成熟丰满熟妇高潮xxxxx视频 | 亚洲精品456在线播放| 久久人人97超碰国产亚洲人| 又色又爽又黄的美女裸体网站| 男女性高爱潮免费网站| www夜片内射视频日韩精品成人 | 日日噜噜夜夜狠狠久久丁香五月| 成人无码av一区二区三区 | 国产亚洲日韩欧美一区二区三区| 亚洲国产成在人网站天堂| 性欧美videofree高清精品| 国产热re99久久6国产精品首页| 无码人妻精品一区二区蜜桃百度| 久久婷婷五月综合色欧美蜜芽 | 人妻av无码一区二区三区| 亚洲欧美丝袜精品久久| 亚洲中文无码人a∨在线导航| 国产在线清纯极品美女援交| 久久午夜神器| 伊人久久大香线蕉亚洲| 蜜臀av色欲a片无码一区|