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Leadgene Leadgene
Human MTM1, His Tag, E. coli
Catalog Number

LDG181PHE

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  • Specifications
    • Species of Origin

      Human

      Expression System

      Escherichia coli

    • Affinity Tag

      His Tag (N-term)

      Storage Buffer

      Lyophilized from a 0.2 µm filtered solution of PBS, pH 7.4.

    • Purity

      >95% as determined by SDS-PAGE analysis.

      Molecular weight

      The protein has a calculated MW of 70.75 kDa.
      The protein migrates as 60 kDa uder reducing condition (SDS-PAGE analysis).

    • Endotoxin Level

      <1.0 EU per 1 μg of the protein by the LAL method.

      Form

      Lyophilized

  • Background
    • Background

      Myotubularin is a protein that plays a crucial role in cellular processes and is primarily associated with a rare genetic disorder called myotubular myopathy (MTM). This disorder primarily affects skeletal muscles and is characterized by severe muscle weakness and impaired motor function.

      Myotubularin is an enzyme that regulates the levels of a lipid molecule called phosphatidylinositol 3-phosphate (PI3P) within cells. PI3P is involved in various cellular functions, including membrane trafficking and signaling pathways. Mutations in the gene encoding myotubularin lead to a deficiency or loss of its enzymatic activity, disrupting PI3P metabolism and causing the development of MTM.

      Synonyms

      Phosphatidylinositol-3,5-bisphosphate 3-phosphatase, Phosphatidylinositol-3-phosphate phosphatase, CG2

    • Uniprot ID

      #Q13496

      Sequence Note

      Met1-Phe603

  • Instruction
    • Reconstitution

      It is recommended to reconstitute the lyophilized protein in sterile H₂O to a concentration not less than 200 μg/mL and incubate the stock solution for at least 20 min to ensure sufficient re-dissolved.

      Shipping

      The product is shipped with polar packs. Upon receipt, store it immediately at -20°C or lower for long term storage.

    • Stability & Storage

      This product is stable after storage at:

      • -20°C for 12 months in lyophilized state from date of receipt.
      • -20°C or -80°C for 1 month under sterile conditions after reconstitution.

      Avoid repeated freeze/thaw cycles.

  • Image
    SDS-PAGE analysis of recombinant human MTM1.

    SDS-PAGE analysis of recombinant human MTM1.

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  • Datasheet & Documents
    MSDS
    Manual
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