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BBS9 Antibody

  • 货号：
    CSB-PA659641LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human liver tissue using CSB-PA659641LA01HU at dilution of 1:100
    • Immunofluorescent analysis of Hela cells using CSB-PA659641LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) BBS9 Polyclonal antibody
  • Uniprot No.：
    Q3SYG4
  • 基因名：
    BBS9
  • 别名：
    B1 antibody; Bardet Biedl syndrome 9 antibody; Bardet-Biedl syndrome 9 protein antibody; bbs9 antibody; C18 antibody; D1 antibody; MGC118917 antibody; OTTHUMP00000158833 antibody; OTTHUMP00000202918 antibody; OTTHUMP00000202919 antibody; OTTHUMP00000202920 antibody; Parathyroid hormone-responsive B1 gene protein antibody; Protein PTHB1 antibody; PTH-responsive osteosarcoma B1 protein antibody; PTHB1 antibody; PTHB1_HUMAN antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Protein PTHB1 protein (8-185AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，BBS9 Antibody (CSB-PA659641LA01HU)，的标记方式是Non-conjugated。对于BBS9 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA659641LB01HU BBS9 Antibody, HRP conjugated ELISA
    FITC CSB-PA659641LC01HU BBS9 Antibody, FITC conjugated
    Biotin CSB-PA659641LD01HU BBS9 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC, IF
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
    IF 1:50-1:200
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 功能：
    The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization.
  • 基因功能参考文献：
    1. Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women PMID: 26480920
    2. BBS9/PTHB1 gene mutations have been shown to be associated with Bardet Biedl syndrome and to the best of our knowledge this study reports the first Pakistani family linked to the BBS9 gene. PMID: 26846096
    3. BBS9 has four folded domains, based on structure prediction; the N-terminal domain is a beta-propeller. PMID: 26085087
    4. 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
    5. The endoplasmic reticulum membrane J protein C18 executes a distinct role in promoting simian virus 40 membrane penetration. PMID: 25631089
    6. Robust associations with nonsyndromic sagittal craniosynostosis were found in a 120-kb region downstream of BMP2 flanked by rs1884302 and rs6140226 and within a 167-kb region of BBS9 between rs10262453 and rs17724206. PMID: 23160099
    7. Human BBS9 mRNA rescues bbs9 knockdown phenotype in the zebrafish. PMID: 22479622
    8. gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour; new alternately spliced isoforms were found in a wide range of adult and foetal tissues PMID: 12618763
    9. Comparative genomics and gene expression analysis identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene. PMID: 16380913
    10. PTHB1 is strongly associated with POF, and ht1 confers susceptibility to POF PMID: 18349106

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  • 相关疾病：
    Bardet-Biedl syndrome 9 (BBS9)
  • 亚细胞定位：
    Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
  • 组织特异性：
    Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain.
  • 数据库链接：

    HGNC: 30000

    OMIM: 607968

    KEGG: hsa:27241

    STRING: 9606.ENSP00000242067

    UniGene: Hs.372360