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Recombinant Human Myotubularin (MTM1)

ACP18389

Number
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High Purity LevelsPrecision and ReliabilityCustomization Options

Specifications


Cat.No ACP18389 Target NameMTM1
Target SynonymsAF073996; CG2; CNM; KIAA4176; mKIAA4176; Mtm; Mtm1; MTM1_HUMAN; MTMX; Myotubular myopathy 1; Myotubularin; XLMTMFormLyophilized powder
Expression SystemCustom Production. Please inquire and provide the desire expression system.Expression Range1-603
Protein LengthFull length proteinPurity>85% (SDS-PAGE)
Storage Buffer5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0.

Immunogen Information


Target SpeciesHumanUniprot IDQ13496
Background Information
  • Uniprot Id

    Q13496

  • Target Species

    Human

  • Target Name

    MTM1

  • Target Full Name

    Myotubularin

  • Target Function

    Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis. In skeletal muscles, stabilizes MTMR12 protein levels.

  • Target Involvement

    Myopathy, centronuclear, X-linked (CNMX)

  • Target Subcellular Location

    Cytoplasm. Cell membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Late endosome. Cytoplasm, myofibril, sarcomere.

  • Target Protein Families

    Protein-tyrosine phosphatase family, Non-receptor class myotubularin subfamily

  • Target Research Area

    Cell Biology

  • Target Synonyms

    AF073996; CG2; CNM; KIAA4176; mKIAA4176; Mtm; Mtm1; MTM1_HUMAN; MTMX; Myotubular myopathy 1; Myotubularin; XLMTM

  • Target Background

    This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.

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