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MTMR14 Antibody

  • 货号：
    CSB-PA015178GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q8NCE2
  • 基因名：
  • 别名：
    C3orf29 antibody; Egg derived tyrosine phosphatase homolog antibody; FLJ11546 antibody; FLJ22405 antibody; FLJ46453 antibody; FLJ90311 antibody; HCV NS5A transactivated protein 4 splice variant A binding protein 1 antibody; HCV NS5A-transactivated protein 4 splice variant A-binding protein 1 antibody; hEDTP antibody; hJumpy antibody; jumpy antibody; MTMR 14 antibody; MTMR14 antibody; MTMRE_HUMAN antibody; Myotubularin related protein 14 antibody; Myotubularin-related protein 14 antibody; NS5ATP4ABP1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human MTMR14
  • 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 0.1% 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：
    Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.
  • 基因功能参考文献：
    1. This study provides the first in vivo evidence for a role of myotubularins, and in particular MTMR14, in the regulation of autophagy. PMID: 20595810
    2. The s uncovered a key negative regulatory role in autophagy of a phosphatidylinositol 3-phosphate (PI3P) phosphatase Jumpy (MTMR14). PMID: 19590496
    3. Study identified a novel phosphoinositide phosphatase, JUMPY in sporadic cases of centronuclear myopathy; two missense variants that affect the enzymatic function were found PMID: 17008356
    4. C3orf29 encodes hJUMPY, a phosphoinositide 3-phosphate phosphatase that acts on PtdIns3P and PtdIns(3,5)P2. A missense mutation disrupts the catalytic activity in a patient with centronuclear myopathy. PMID: 17008356
  • 相关疾病：
    Myopathy, centronuclear, 1 (CNM1)
  • 亚细胞定位：
    Cytoplasm. Note=Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus.
  • 蛋白家族：
    Protein-tyrosine phosphatase family, Non-receptor class myotubularin subfamily
  • 组织特异性：
    Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas.
  • 数据库链接：

    HGNC: 26190

    OMIM: 160150

    KEGG: hsa:64419

    STRING: 9606.ENSP00000296003

    UniGene: Hs.475382