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BBS4 Antibody

  • 货号：
    CSB-PA839407ESR2HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Western blot
      All lanes: Bardet-Biedl syndrome 4 protein antibody at 4μg/ml
      Lane 1: Hela whole cell lysate
      Lane 2: U251 whole cell lysate
      Lane 2: Mouse heart tissue
      Secondary
      Goat polyclonal to rabbit IgG at 1/10000 dilution
      Predicted band size: 59, 60, 39 kDa
      Observed band size: 59 kDa
    • Immunohistochemistry of paraffin-embedded human breast cancer using CSB-PA839407ESR2HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA839407ESR2HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) BBS4 Polyclonal antibody
  • Uniprot No.：
    Q96RK4
  • 基因名：
    BBS4
  • 别名：
    Bardet Biedl syndrome 4 protein antibody; Bardet-Biedl syndrome 4 protein antibody; Bbs4 antibody; BBS4_HUMAN antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human, Mouse
  • 免疫原：
    Recombinant Human Bardet-Biedl syndrome 4 protein (350-519AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, WB, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:200-1:1000
    IHC 1:20-1:200
  • 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. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome.
  • 基因功能参考文献：
    1. a novel nonsense mutation in BBS4 gene in a Chinese family with Bardet-Biedl syndrome. This homozygous mutation was predicted to completely abolish the synthesis of the BBS4 protein; a rare heterozygous missense SNP in BBS10 gene was also detected PMID: 25533820
    2. Results present evidence of a role for BBS4 in mediating the phosphorylation of TrkB by BDNF and its activation requires a proper localization to the ciliary axoneme. PMID: 24867303
    3. Findings indicate that Bbs proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA levels. PMID: 23716571
    4. Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice. PMID: 23554981
    5. A novel missense mutation in BBS4 that co-segregates with Leber Congenital Amaurosis was identified in a consanguineous family from Saudi Arabia. PMID: 22219648
    6. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Evaluated the spectrum of mutations in the recently identified BBS4 gene with a combination of haplotype analysis and mutation screening. PMID: 12016587
    7. The phenotype of patients with BBS4 mutations consists of severe retinitis pigmentosa, variable obesity, brachydactyly with variable polydactyly, small or missing teeth, genital hypoplasia, and cardiovascular disease. PMID: 12365916
    8. A novel Frameshift Mutation between the splice donor site and exon 5 of BBS4 in a Bardet-Biedl syndrome patient and a novel heterozygous base substitution in both an affected mother and her affected daughter. PMID: 12872256

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  • 相关疾病：
    Bardet-Biedl syndrome 4 (BBS4)
  • 亚细胞定位：
    Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cell projection, cilium, flagellum. Cell projection, cilium.
  • 蛋白家族：
    BBS4 family
  • 组织特异性：
    Ubiquitously expressed. The highest level of expression is found in the kidney.
  • 数据库链接：

    HGNC: 969

    OMIM: 600374

    KEGG: hsa:585

    STRING: 9606.ENSP00000268057

    UniGene: Hs.208681