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IFT52 Antibody

  • 货号：
    CSB-PA011075GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9Y366
  • 基因名：
    IFT52
  • 别名：
    IFT52 antibody; C20orf9 antibody; NGD5 antibody; CGI-53 antibody; Intraflagellar transport protein 52 homolog antibody; Protein NGD5 homolog antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human IFT52
  • 免疫原种属：
    Homo sapiens (Human)
  • 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, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IF
  • 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：
    Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. Required for the anterograde transport of IFT88.
  • 基因功能参考文献：
    1. The data identify a new locus for short-rib polydactyly syndromes (SRPS) and show that IFT52 mutations result in a ciliopathy with primary effects on the skeleton. PMID: 27466190
    2. Whole-exome sequencing revealed a homozygous nonsense variant p.R142* in IFT52 encoding an IFT-B core complex protein as the probable cause of her condition. This is the first report of a human disease associated with IFT52 PMID: 26880018
  • 相关疾病：
    Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16)
  • 亚细胞定位：
    Cell projection, cilium.
  • 数据库链接：

    HGNC: 15901

    OMIM: 617094

    KEGG: hsa:51098

    STRING: 9606.ENSP00000362121

    UniGene: Hs.444332