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, FITC conjugated

  • 中文名稱:
    USH1G兔多克隆抗體, FITC偶聯
  • 貨號:
    CSB-PA676572LC01HU
  • 規格:
    ¥880
  • 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:
    FITC
  • 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
  • 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: 九个美女露脸撒尿嘘嘘视频| 亚洲综合色区中文字幕| 亚洲欧美激情精品一区二区| 99久久婷婷国产综合精品 | 亚洲精品久久久久久久蜜桃| 俄罗斯美女真人性做爰| 欧美国产激情一区二区在线| 一本大道大臿蕉视频无码| 国产奶头好大揉着好爽视频| www片香蕉内射在线88av8| 人妻天天爽夜夜爽精品视频| 中文字幕久久精品无码| 久久婷婷国产综合精品| 国产乱人伦偷精品视频免下载| 久久亚洲国产精品影院| 无码av最新高清无码专区| 免费无码又爽又高潮视频| 最近中文2019字幕第二页| 国产婷婷亚洲999精品小说| 久久精品国产亚洲αv忘忧草| 久久精品一区二区三区中文字幕| 在线日韩日本国产亚洲| 国产精品aⅴ在线观看| 男人添女人下部高潮全视频| 国产精品喷浆| 一区二区三区人妻无码| 波多野结衣乱码中文字幕| 久久天天躁狠狠躁夜夜躁app| 久久久久国产精品嫩草影院| 国产精品亚洲一区二区三区喷水| 亚洲日韩色在线影院性色| 337p日本欧洲亚洲大胆精品| 色综合久久久久久久久久| 92国产精品午夜免费福利视频| 强 暴 疼 哭 处 女 身子视频| 国产精品毛片无码| 无码内射中文字幕岛国片| 中文无码第3页不卡av| 影音先锋亚洲成aⅴ人在| 色狠狠一区二区三区香蕉| 欧美性生交xxxxx无码久久久|