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  4. BBS10 Antibody

BBS10 Antibody

  • 中文名稱：
    BBS10兔多克隆抗體
  • 貨號：
    CSB-PA823443LA01HU
  • 規(guī)格：
    ￥440
  • 圖片：
    • Immunohistochemistry of paraffin-embedded human liver cancer using CSB-PA823443LA01HU at dilution of 1:100
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) BBS10 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    BBS10
  • 別名：
    BBS10 antibody; C12orf58Bardet-Biedl syndrome 10 protein antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human Bardet-Biedl syndrome 10 protein (435-552AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標(biāo)記方式：
    Non-conjugated

    本頁面中的產(chǎn)品，BBS10 Antibody (CSB-PA823443LA01HU)，的標(biāo)記方式是Non-conjugated。對于BBS10 Antibody，我們還提供其他標(biāo)記。見下表：

    可提供標(biāo)記
    標(biāo)記方式 貨號 產(chǎn)品名稱 應(yīng)用
    HRP CSB-PA823443LB01HU BBS10 Antibody, HRP conjugated ELISA
    FITC CSB-PA823443LC01HU BBS10 Antibody, FITC conjugated
    Biotin CSB-PA823443LD01HU BBS10 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(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA, IHC
  • 推薦稀釋比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • 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(chǎn)品評價

靶點(diǎn)詳情

  • 功能：
    Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis. Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation.
  • 基因功能參考文獻(xiàn)：
    1. In the 64 BBS patients (44 males, 20 females) were studied, mutations were predominant in BBS10 and ARL6 genes; the c.272T>C; p.(I91T) mutation in ARL6 gene was a recurrent mutation PMID: 29806606
    2. Genetic analysis revealed compound heterozygous BBS10 mutations in the patient: a novel missense mutation c.98G>A PMID: 29666954
    3. we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports. PMID: 24400638
    4. novel BBS10 mutations in Bardet-Biedl syndrome patients in Spain PMID: 24611592
    5. Novel mutation (c.1181_1182insGCATTTATACC) in BBS10 (p.S396Lfs*6) found in Tunisian families with Bardet-Biedl syndrome. PMID: 23432027
    6. A rare variant (c.1189A>G [p.Ile397Val]; rs202042386) confers risk of type 2 diabetes in a recessive state. PMID: 25439097
    7. We report two affected brothers from a consanguineous Pakistani Punjabi family, both the brothers were homozygous for c.1958_1967del, which is a novel deletion in BBS10 that is likely to be causing the Bardet-Biedl syndrome in this family. PMID: 23403234
    8. Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome. PMID: 23219996
    9. This study confirms the high frequency of BBS10 mutations, particularly of the p.Cys91LeufsX5 allele in Bardet-Biedl syndrome. PMID: 20805367
    10. Mutation in BBS10 modulates Bardet-Biedl syndrome in a sibling. PMID: 20827784
    11. Using sequence analysis, the role of BBS6, 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families. PMID: 20472660
    12. Detected in a family with high consanguinity and Bardet-Biedl syndrome. PMID: 17101080
    13. the BBS10 and BBS12 proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the GSK3 pathway, and induces PPAR nuclear accumulation, hence favoring adipogenesis PMID: 19190184

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  • 相關(guān)疾病：
    Bardet-Biedl syndrome 10 (BBS10)
  • 亞細(xì)胞定位：
    Cell projection, cilium.
  • 蛋白家族：
    TCP-1 chaperonin family
  • 數(shù)據(jù)庫鏈接：

    HGNC: 26291

    OMIM: 610148

    KEGG: hsa:79738

    STRING: 9606.ENSP00000376946

    UniGene: Hs.96322



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