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KIF7 Monoclonal Antibody

  • 货号：
    CSB-MA000220
  • 规格：
    ￥660
  • 图片：
    • IHC staining of Mouse Kidney tissue, diluted at 1:200.
  • 其他：

产品详情

  • Uniprot No.：
    Q2M1P5
  • 基因名：
  • 别名：
    EQYK340 antibody; kif7 antibody; KIF7_HUMAN antibody; kinesin family member 7 antibody; kinesin like protein KIF7 antibody; Kinesin-like protein kif7 antibody; UNQ340 antibody
  • 宿主：
    Mouse
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthetic Peptide
  • 免疫原种属：
    H, M, R
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS, pH 7.4, containing 0.02% sodium azide as Preservative and 50% Glycerol.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:100-1:200
  • 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：
    Essential for hedgehog signaling regulation: acts as both a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms. Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes. Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. In keratinocytes, promotes the dissociation of SUFU-GLI2 complexes, GLI2 nuclear translocation and Shh signaling activation. Involved in the regulation of epidermal differentiation and chondrocyte development.
  • 基因功能参考文献：
    1. two children who both had two missense mutations in the Kinesin Family Member 7 (KIF7) gene, are reported. PMID: 26174511
    2. Kif7 may contribute to pathogenesis of gestational trophoblastic disease through enhancing survival and promoting dissemination of trophoblasts. PMID: 25265279
    3. We identified a Turkish family who had a novel homozygous sequence change, c.2593-2A>C, located at the acceptor splice site of intron 12 of KIF7 (IVS12-2A>C). PMID: 25714560
    4. results suggested that PPFIA1 functioned with PP2A to promote the dephosphorylation of Kif7, triggering Kif7 localization to the tips of primary cilia and promoting Gli transcriptional activity. PMID: 25492966
    5. Studied the ExoS to identify unknown cellular targets associated with ExoS-induced cytotoxicity in a P. aeruginosa infection model.A pull-down assay revealed that ExoS bound the truncated KIF7 gene encoding the N-terminal domain (residues 1-109) of KIF7. PMID: 24462444
    6. six novel mutations were identified at the KIF7 locus in five suspected Acrocallosal syndrome cases PMID: 23125460
    7. This study confirms that KIF7 mutations can cause acrocallosal syndrome. PMID: 23142271
    8. report the first missense homozygous disease-causing mutation in KIF7 and expand the clinical spectrum associated with mutations in this gene to include multiple epiphyseal dysplasia PMID: 22587682
    9. The high-resolution structure of the human KIF7 motor domain is reported and is compared with that of conventional kinesin, the founding member of the kinesin superfamily. PMID: 22281744
    10. Data report mutations in the KIF7 gene, a known regulator of sonic hedgehog signaling and a putative ciliary motor protein, in Joubert syndrome patients. PMID: 21633164
    11. Our data show the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies. PMID: 21552264

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  • 相关疾病：
    Bardet-Biedl syndrome (BBS); Hydrolethalus syndrome 2 (HLS2); Acrocallosal syndrome (ACLS); Joubert syndrome 12 (JBTS12); Al-Gazali-Bakalinova syndrome (AGBK)
  • 亚细胞定位：
    Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes to the cilium tip.
  • 蛋白家族：
    TRAFAC class myosin-kinesin ATPase superfamily, Kinesin family, KIF27 subfamily
  • 组织特异性：
    Embryonic stem cells, melanotic melanoma and Jurkat T-cells. Expressed in heart, lung, liver, kidney, testis, retina, placenta, pancreas, colon, small intestin, prostate and thymus.
  • 数据库链接：

    HGNC: 30497

    OMIM: 200990

    KEGG: hsa:374654

    STRING: 9606.ENSP00000377934

    UniGene: Hs.513134