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

USH1G Antibody

  • 中文名稱:
    USH1G兔多克隆抗體
  • 貨號:
    CSB-PA676572LA01HU
  • 規格:
    ¥440
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) USH1G Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    USH1G
  • 別名:
    ANKS 4A antibody; ANKS4A antibody; FLJ33924 antibody; SANS antibody; Scaffold protein containing ankyrin repeats and SAM domain antibody; USH 1G antibody; USH1G antibody; USH1G_HUMAN antibody; Usher syndrome 1G (autosomal recessive) antibody; Usher syndrome type 1G protein antibody; Usher syndrome type-1G protein antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human Usher syndrome type-1G protein (1-300AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated

    本頁面中的產品,USH1G Antibody (CSB-PA676572LA01HU),的標記方式是Non-conjugated。對于USH1G Antibody,我們還提供其他標記。見下表:

    可提供標記
    標記方式 貨號 產品名稱 應用
    HRP CSB-PA676572LB01HU USH1G Antibody, HRP conjugated ELISA
    FITC CSB-PA676572LC01HU USH1G Antibody, FITC conjugated
    Biotin CSB-PA676572LD01HU USH1G Antibody, Biotin conjugated ELISA
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    >95%, Protein G purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA
  • Protocols:
  • 儲存條件:
    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.

產品評價

靶點詳情

  • 功能:
    Required for normal development and maintenance of cochlear hair cell bundles. 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 hearing.
  • 基因功能參考文獻:
    1. Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G severely affect formation of the SANS/ush2a/whirlin complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes. PMID: 28137943
    2. USH1G caused a non-syndromic hearing loss in a Dutch family. Compound heterozygous mutations in USH1G were found to segregate with the hearing loss, a missense (c.310A>G, p.Met104Val) and a frameshift mutation (c.780insGCAC, p.Tyr261Alafs*96). PMID: 25255398
    3. In USH1G patients, mutations in SANS eliminate Magi2 binding and thereby deregulate endocytosis, lead to defective ciliary transport modules and ultimately disrupt photoreceptor cell function inducing retinal degeneration. PMID: 24608321
    4. A novel p.S243X truncating mutation in USH1G that segregated with the disease phenotype has been identified in consanguineous Saudi Arabia siblings. PMID: 22876113
    5. Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1. PMID: 22219650
    6. A role of the SANS-myomegalin complex in microtubule-dependent inner segment cargo transport towards the ciliary base of photoreceptor cells. PMID: 21767579
    7. crystal structure of MYO7A MyTH4-FERM domains in complex with the central domain (CEN) of Sans at 2.8 angstrom resolution; MyTH4-FERM/CEN complex structure provides mechanistic explanations for known deafness-causing mutations in MYO7A MyTH4-FERM PMID: 21311020
    8. A frameshift mutation in SANS results in atypical Usher syndrome PMID: 21044053
    9. Mutations in harmonin and Sans found in USH1 patients are shown to destabilize the complex formation of the two proteins PMID: 20142502
    10. A novel D458V mutation in the USH1G PDZ binding motif causes atypical Usher syndrome. PMID: 16283141
    11. USH1G has a minor involvement in Usher syndrome pathogenesis. Only eight different changes without a clear pathogenic effect have been detected. PMID: 17896313

    顯示更多

    收起更多

  • 相關疾病:
    Usher syndrome 1G (USH1G)
  • 亞細胞定位:
    Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein.
  • 組織特異性:
    Expressed in vestibule of the inner ear, eye and small intestine.
  • 數據庫鏈接:

    HGNC: 16356

    OMIM: 276900

    KEGG: hsa:124590

    STRING: 9606.ENSP00000320076

    UniGene: Hs.376688



主站蜘蛛池模板: 国产免费一区二区视频| 亚洲男同gv在线观看| 性视频播放免费视频| 中文字幕精品无码一区二区三区 | 色欲色香天天天综合无码www| 色一情一区二| 国产欧洲精品自在自线官方 | 久久亚洲人成电影网| 国产乱人伦偷精精品视频| 少妇一边呻吟一边说使劲视频| 亚洲精品熟女国产| 在线资源天堂www| 夫妻免费无码v看片| 少女韩国电视剧在线观看完整 | 狼人无码精华av午夜精品| 亚洲不乱码卡一卡二卡4卡5 | 极品少妇一区二区三区四区| 午夜在线观看免费线无码视频 | 香蕉在线依人视频| 国内大量偷窥精品视频| 韩国三级中文字幕hd久久精品 | 日韩欧美国产一区精品| 午夜天堂一区人妻| 成人性生交大片免费看| 毛片免费观看天天干天天爽| 亚洲欧美黑人深喉猛交群| 天堂网在线.www天堂在线资源| 久久国产乱子伦精品免费午夜| 精品人妻系列无码专区| 人妻少妇偷人精品视频| 香港三级韩国三级日本三级| 强伦姧人妻免费无码电影| 99re久久精品国产首页| 色综合久久久久久久久久| 无码少妇一区二区浪潮免费| 裸体丰满白嫩大尺度尤物| 男人靠女人免费视频网站| 国产在线观看无码的免费网站| 国产人在线成免费视频| 男人的天堂在线视频| 国产 精品 自在 线免费|