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  4. MTMR2 Antibody

MTMR2 Antibody

  • 中文名稱：
    MTMR2兔多克隆抗體
  • 貨號：
    CSB-PA613418LA01HU
  • 規(guī)格：
    ￥440
  • 圖片：
    • Western Blot
      Positive WB detected in: Hela whole cell lysate
      All lanes: MTMR2 antibody at 5.5μg/ml
      Secondary
      Goat polyclonal to rabbit IgG at 1/50000 dilution
      Predicted band size: 74, 66 kDa
      Observed band size: 74 kDa
    • IHC image of CSB-PA613418LA01HU diluted at 1:400 and staining in paraffin-embedded human testis tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
    • Immunofluorescence staining of Hela cells with CSB-PA613418LA01HU at 1:133, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) MTMR2 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
  • 別名：
    CMT4B antibody; CMT4B1 antibody; KIAA1073 antibody; MTMR2 antibody; MTMR2_HUMAN antibody; Myotubularin related protein 2 antibody; Myotubularin-related protein 2 antibody; OTTHUMP00000204445 antibody; OTTHUMP00000204446 antibody; OTTHUMP00000204447 antibody; OTTHUMP00000204448 antibody; Phosphatidylinositol 3 phosphate phosphatase antibody; Phosphatidylinositol 3,5 bisphosphate 3 phosphatase antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human Myotubularin-related protein 2 protein (1-173AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標(biāo)記方式：
    Non-conjugated

    本頁面中的產(chǎn)品，MTMR2 Antibody (CSB-PA613418LA01HU)，的標(biāo)記方式是Non-conjugated。對于MTMR2 Antibody，我們還提供其他標(biāo)記。見下表：

    可提供標(biāo)記
    標(biāo)記方式 貨號 產(chǎn)品名稱 應(yīng)用
    HRP CSB-PA613418LB01HU MTMR2 Antibody, HRP conjugated ELISA
    FITC CSB-PA613418LC01HU MTMR2 Antibody, FITC conjugated
    Biotin CSB-PA613418LD01HU MTMR2 Antibody, Biotin conjugated ELISA
  • 克隆類型：
    Polyclonal
  • 抗體亞型：
    IgG
  • 純化方式：
    >95%, Protein G purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA, WB, IHC, IF
  • 推薦稀釋比：
    Application Recommended Dilution
    WB 1:500-1:5000
    IHC 1:300-1:500
    IF 1:50-1:200
  • Protocols：
  • 儲存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    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.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評價

靶點詳情

  • 功能：
    Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. Binds phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Stabilizes SBF2/MTMR13 at the membranes. Specifically in peripheral nerves, stabilizes SBF2/MTMR13 protein.
  • 基因功能參考文獻(xiàn)：
    1. report the case of a Charcot-Marie-Tooth type 4B1 patient with a novel mutation in the MTMR2 gene (nonsense mutation in exon 6c.484 C>T; p.Arg162*) who started to experience stridor and was diagnosed with bilateral vocal cord paralysis at the age of 18 months - case report and review PMID: 28190646
    2. Expression of several MTMR2 isoforms ameliorates the myopathic phenotype owing to MTM1 loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy. PMID: 28934386
    3. The expression of the endogenous transcript is induced in a heterologous cell line by ectopically expressing SOX10, and is nearly ablated in Schwann cells by impairing SOX10 function. Intriguingly, overexpressing the two MTMR2 protein isoforms in HeLa cells revealed that both localize to nuclear puncta and the shorter isoform displays higher nuclear localization compared to the longer isoform PMID: 27466180
    4. we identified a novel mutation in MTMR2 in a family with CMT4B1 and myelin outfoldings PMID: 23781969
    5. these results reveal that MTMR2 compartmentalization and potential subsequent effects on endosome maturation and endosome signaling are dynamically regulated through MAPK-mediated differential phosphorylation events. PMID: 23378027
    6. Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. PMID: 21741241
    7. MTMR2 phosphorylation is likely to be a critical mechanism by which MTMR2 access to its lipid substrate(s) is temporally and spatially regulated, thereby contributing to the control of downstream endosome maturation events. PMID: 21372139
    8. MTMR2 shares similar phosphatase activity and substrate specificity than its homologous proteins MTM1 and MTMR3 PMID: 11846405
    9. REVIEW : MTMR2 belongs to the myotubularin family of phosphoinositides phosphatases PMID: 12925573
    10. Loss of MTMR2, by decreasing Schwann cells proliferation and survival, may impair the first stages of myelination of the peripheral nervous system PMID: 17336078
    11. REVIEW : MTMR2 and homologous proteins are mutated in several neuromuscular diseases PMID: 18429927
    12. A homozygous cytosine to thymine missense mutation at nucleotide position 847, resulting in an amino acid substitution of arginine to tryptophan at codon 283, was detected in exon 9 of the MTMR2 gene PMID: 12398840
    13. MTMR2 interacts with MTMR5 via its coiled-coil domain and that mutations in the coiled-coil domain of either MTMR2 or MTMR5 abrogate this interaction. PMID: 12668758
    14. crystal structure of MTMR2, a protein tyrosine phosphatase that is a member of the myotubularin-related protein family. PMID: 14690594
    15. Loss of MTMR13 (SBF2) function in Charcot-Marie-Tooth disease type 4B patients may lead to alterations in MTMR2 function and subsequent alterations in 3-phosphoinositide signaling. PMID: 15998640
    16. analysis of the molecular basis for this unique substrate specificity of human myotubularin-related protein-2 (MTMR2) in complex with phosphoinositides PMID: 16410353
    17. review of the role of MTMR2 and MTMR13 and their involvement in the biology of Schwann cell and CMT4B neuropathies PMID: 17880751

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  • 相關(guān)疾病：
    Charcot-Marie-Tooth disease 4B1 (CMT4B1)
  • 亞細(xì)胞定位：
    Cytoplasm. Early endosome membrane; Peripheral membrane protein. Cytoplasm, perinuclear region. Cell projection, axon. Endosome membrane; Peripheral membrane protein.
  • 蛋白家族：
    Protein-tyrosine phosphatase family, Non-receptor class myotubularin subfamily
  • 數(shù)據(jù)庫鏈接：

    HGNC: 7450

    OMIM: 601382

    KEGG: hsa:8898

    STRING: 9606.ENSP00000345752

    UniGene: Hs.181326



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