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PLEKHG5 Antibody

  • 货号：
    CSB-PA018174GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    O94827
  • 基因名：
    PLEKHG5
  • 别名：
    PLEKHG5 antibody; KIAA0720 antibody; Pleckstrin homology domain-containing family G member 5 antibody; PH domain-containing family G member 5 antibody; Guanine nucleotide exchange factor 720 antibody; GEF720 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human PLEKHG5
  • 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
  • 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：
    Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons. Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Affects also the migration, adhesion, and matrix/bone degradation in macrophages and osteoclasts.
  • 基因功能参考文献：
    1. Results indicate that different mutations in PLEKHG5 lead to clinically diverse outcomes Charcot-Marie-Tooth disease or lower motor neuron disease affecting the function of neurons and glial cells. PMID: 23777631
    2. Recruitment of Syx to the cell membrane, the selective activation of Dia1 signaling, coupled with the suppression of ROCK and actin reorganization, plays a key role in establishing cell polarity during directed cell migration. PMID: 24126053
    3. This study identifies compound heterozygous PLEKHG5 mutations as the cause of recessive intermediate Charcot-Marie-Tooth disease. PMID: 23844677
    4. a novel means of regulating junctional Syx localization and function by phosphorylation-induced 14-3-3 binding and further support the importance of Syx function in maintaining stable cell-cell contacts. PMID: 23335514
    5. We identified a homozygous missense mutation (c.1940 T-->C [p.647 Phe-->Ser]) of the Pleckstrin homology domain-containing, family G member 5 gene, PLEKHG5, in families with lower motor neuron disease. PMID: 17564964

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  • 相关疾病：
    Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4); Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC)
  • 亚细胞定位：
    Cytoplasm. Cytoplasm, perinuclear region. Cell membrane. Cell junction. Cell projection, lamellipodium.
  • 组织特异性：
    Predominantly expressed in the peripheral nervous system and brain. Highest expression is observed in heart, lung, kidney, testis and moderate expression is present in spleen, pancreas, skeletal muscle, ovary and liver. Weakly expressed in glioblastoma (G
  • 数据库链接：

    HGNC: 29105

    OMIM: 611067

    KEGG: hsa:57449

    STRING: 9606.ENSP00000366977

    UniGene: Hs.284232