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Recombinant Mouse Ribitol-5-phosphate transferase FKTN (Fktn), partial

In Stock
  • 中文名稱:
    小鼠Fktn重組蛋白
  • 貨號:
    CSB-EP008709MO
  • 規格:
    ¥1344
  • 圖片:
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他:

產品詳情

  • 純度:
    Greater than 85% as determined by SDS-PAGE.
  • 基因名:
    Fktn
  • Uniprot No.:
  • 別名:
    Fukuyama-type congenital muscular dystrophy proteinRibitol-5-phosphate transferase
  • 種屬:
    Mus musculus (Mouse)
  • 蛋白長度:
    Partial
  • 來源:
    E.coli
  • 分子量:
    57.8 kDa
  • 表達區域:
    29-461aa
  • 氨基酸序列
    KHYLSARNGPGSSKSKGNRVGFDSTQWRAVKKFIMLTSSQNVPVFLIDPWILESINKNFEQVKNASQGPASECRFFCVPRDFTAFALQYHLWKNEDGWFRIAENMGFQCLKTESKDPRLDGIDSLSGTEIPLHYVCKLTTHAIHLVVFHERSGNYLWHGHLRLKGHMDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLDMLIPKDPGRFLEEVPHSRFIECRYKEARAFLQQYIDDNTVDAMVFRKRAKELLQLAAKTLKDLGVPFWLSSGTCLGWYRQCGIIPYSKDVDLGIFIQDYKPDIILAFQEAGLPLKHKFGKVEDSLELSFQGKNDVKLDIFFFYEEADHLWNGGTQARTGKKFKYLFPKFTLCWTEFVDIKVHVPCETVDYIEANYGKTWKIPIKTWDWKSSPPNVQPNGIWPISEWDEVIQLY
    Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
    If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
  • 蛋白標簽:
    N-terminal 10xHis-tagged and C-terminal Myc-tagged
  • 產品提供形式:
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 緩沖液:
    If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
  • 復溶:
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件:
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期:
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期:
    3-7 business days
  • 注意事項:
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA:
    Please contact us to get it.

產品評價

靶點詳情

  • 功能:
    Catalyzes the transfer of CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1. Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development (Probable).
  • 基因功能參考文獻:
    1. Rapamycin treatment in fukutin-deficient mouse model of dystroglycanopathy delays/reduces disease burden. PMID: 27257474
    2. Fktn deficient mice express moderate to severe muscular dystrophy; glycosylated alpha-dystroglycan has a unique role in muscle regeneration in these mice PMID: 26751696
    3. Mouse fukutin deletion impairs dystroglycan processing, recapitulates muscular dystrophy and is relevant to modifications near the dystroglycan O-mannose sugar. PMID: 22922256
    4. disease-causing missense mutations cause abnormal folding and localization of fukutin protein PMID: 22275357
    5. the highly hydrophobic transmembrane domain of Fukutin-1 was purified; the identity of the peptide and revealed that in hydrophobic solvents mimicking the bilayer, the peptide adopts a well-structured alpha-helix as predicted from the sequence. PMID: 20117215
    6. Fukuyama-type congenital muscular dystrophy (FCMD) murine ortholog, Fcmd is 90% identical to that of its human counterpart PMID: 12408965
    7. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the FCMD locus, in three Tunisian patients PMID: 12467726
    8. These results support the hypothesis that fukutin is involved in the glycosylation process of alpha-DG and that a defect in this process plays an essential role in the pathogenesis of FCMD. PMID: 15351499
    9. The basal lamina of the cortical surface in chimeras showed defects at E14, coinciding with the earliest time point at which ectopia were detected PMID: 15907289
    10. fukutin plays crucial roles in the myelination of peripheral nerve and formation of neuromuscular junction. suggest that defective glycosylation of alpha-dystroglycan may play a role in the impairment of these processes in the deficiency of fukutin. PMID: 17326765

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  • 亞細胞定位:
    Golgi apparatus membrane; Single-pass type II membrane protein. Cytoplasm. Nucleus. Endoplasmic reticulum.
  • 蛋白家族:
    LicD transferase family
  • 組織特異性:
    Expressed in the retina, with highest levels found in the inner segments of photoreceptors and the outer plexiform layer (at protein level). Expressed at lower levels in the inner and outer nuclear layers, the inner plexiform layers, and the ganglion cell
  • 數據庫鏈接:


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