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BBS2 Antibody

  • 货号：
    CSB-PA866303ESR2HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human testis tissue using CSB-PA866303ESR2HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human endometrial cancer using CSB-PA866303ESR2HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) BBS2 Polyclonal antibody
  • Uniprot No.：
    Q9BXC9
  • 基因名：
    BBS2
  • 别名：
    BBS2Bardet-Biedl syndrome 2 protein antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Bardet-Biedl syndrome 2 protein (1-96AA)
  • 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, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    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.
  • 基因功能参考文献：
    1. A pair of heterozygous nonsense mutations in BBS2 gene was identified in the proband, one being novel and the other recurrent. The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother PMID: 26078953
    2. 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
    3. Our study shows that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidate for this genetically heterogeneous condition. PMID: 25541840
    4. Novel mutation (c.115+5G>A) in BBS2 found in Tunisian families with Bardet-Biedl syndrome. PMID: 23432027
    5. Carrier frequency has been determined for two BBS2 mutations present in the Ashkenazi Jewish population. PMID: 23829372
    6. Sequence analysis and subsequent RNA studies identified and confirmed a novel splice site mutation, c.472-2A>G, in BBS2. This mutation was also found in homozygous form in three subsequently studied Hutterite BBS patients from two different leuts. PMID: 20618352
    7. A novel missense mutation found in BBS2 exon 4 and a novel intronic point mutation found in Bardet-Biedl syndrome patients. PMID: 12872256
    8. BBS2 and BBS4 localized to cellular structures associated with motile cilia. PMID: 18299575
    9. RET and BBS mutations modulate enteric innervation and cause syndromic Hirschsprung disease PMID: 19666486
    10. Unaffected individuals in 2 pedigrees had 2 but not all 3 mutations that affecteds had which suggests that Bardet-Biedle syndrome might not be a single-gene recessive disease but a complex trait requiring three mutant alleles to manifest the phenotype. PMID: 11567139

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  • 相关疾病：
    Bardet-Biedl syndrome 2 (BBS2); Retinitis pigmentosa 74 (RP74)
  • 亚细胞定位：
    Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
  • 组织特异性：
    Widely expressed.
  • 数据库链接：

    HGNC: 967

    OMIM: 606151

    KEGG: hsa:583

    STRING: 9606.ENSP00000245157

    UniGene: Hs.333738