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  4. SBF2 Antibody, Biotin conjugated

SBF2 Antibody, Biotin conjugated

  • 中文名稱：
    SBF2兔多克隆抗體, Biotin偶聯
  • 貨號：
    CSB-PA773047LD01HU
  • 規格：
    ￥880
  • 其他：

產品詳情

  • 產品名稱：
    Rabbit anti-Homo sapiens (Human) SBF2 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    SBF2
  • 別名：
    SBF2 antibody; CMT4B2 antibody; KIAA1766 antibody; MTMR13 antibody; Myotubularin-related protein 13 antibody; Inactive phosphatidylinositol 3-phosphatase 13 antibody; SET-binding factor 2 antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human
  • 免疫原：
    Recombinant Human Myotubularin-related protein 13 protein (1585-1813AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    Biotin
  • 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
  • 產品提供形式：
    Liquid
  • 應用范圍：
    ELISA
  • 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.

產品評價

靶點詳情

  • 功能：
    Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion. Acts as an adapter for the phosphatase MTMR2. Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate.
  • 基因功能參考文獻：
    1. Rare variants in SBF2 predict an increased risk of taxane-induced peripheral neuropathy in African American breast cancer patients receiving paclitaxel. PMID: 27732968
    2. SBF2, encoding another myotubularin member MTMR13, may promote the progression of pancreatic cancer via the TGF-beta signaling by raising the activated R-SMADs and decreasing inhibitory SMAD-7. PMID: 25882882
    3. Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion. PMID: 25648148
    4. SBF2 frameshift mutation is associated with charcot-marie-tooth disease type 4B2. PMID: 25462154
    5. Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing. PMID: 23334996
    6. Germline genetic variation in the SBF2 locus was associated with overall survival in patients with pancreatic adenocarcinoma of European and Asian ancestry. PMID: 23180869
    7. REVIEW : MTMR13 and homologous proteins are mutated in several neuromuscular diseases PMID: 18429927
    8. A phylogenetic study revealing co-evolution of myotubularins with PI 3-kinase class III complex PMID: 18774718
    9. Mutations in MTMR13 were associated with a syndrome of demyelinating Charcot-Marie-Tooth disease and early onset glaucoma; MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork PMID: 12687498
    10. A loss-of-function mutation in SBF2/MTMR13 causes CMT4B with early-onset glaucoma, possibly by degradation of SBF2 mRNA thru the nonsense mutation decay pathway. PMID: 15304601
    11. The first evidence of a mutation in the splicing site of the SBF2 gene, confirming that mutations in the SBF2 gene are causative of the CMT4B2 subtype of Charcot-Marie-Tooth disease. PMID: 15477569
    12. 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
    13. review of the role of MTMR2 and MTMR13 and their involvement in the biology of Schwann cell and CMT4B neuropathies PMID: 17880751
    14. FLNB and SBF2 are associated with human stature. PMID: 19039035

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  • 相關疾病：
    Charcot-Marie-Tooth disease 4B2 (CMT4B2)
  • 亞細胞定位：
    Cytoplasm. Cytoplasm, perinuclear region. Membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein. Cell projection, axon.
  • 蛋白家族：
    Protein-tyrosine phosphatase family, Non-receptor class myotubularin subfamily
  • 組織特異性：
    Widely expressed. Expressed in spinal cord.
  • 數據庫鏈接：

    HGNC: 2135

    OMIM: 604563

    KEGG: hsa:81846

    STRING: 9606.ENSP00000256190

    UniGene: Hs.577252



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