Overview

  • Product name

  • Description

    Rabbit polyclonal to MTM1
  • Host species

    Rabbit
  • Tested applications

    Suitable for: IHC-P, ICC/IFmore details
  • Species reactivity

    Reacts with: Human
    Predicted to work with: Mouse, Cow, Orangutan
  • Immunogen

    Recombinant fragment corresponding to Human MTM1 aa 158-289.
    Sequence:

    KFNVDGWTVYNPVEEYRRQGLPNHHWRITFINKCYELCDTYPALLVVPYR ASDDDLRRVATFRSRNRIPVLSWIHPENKTVIVRCSQPLVGMSGKRNKDD EKYLDVIRETNKQISKLTIYDARPSVNAVANK


    Database link: Q13496

  • Positive control

    • IHC-P: Human kidney tissue. ICC/IF: U-251 MG cells.

Properties

Applications

Our Abpromise guarantee covers the use of ab223719 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

Application Abreviews Notes
IHC-P 1/200 - 1/500. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.
ICC/IF Use a concentration of 1 - 4 µg/ml.

Fixation/Permeabilization: PFA/Triton X-100.

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.
  • Involvement in disease

    Defects in MTM1 are the cause of centronuclear myopathy X-linked (XCNM) [MIM:310400]; also known as X-linked myotubular myopathy (XLMTM) or myotubular myopathy type 1 (MTM1). Centronuclear myopathies are congenital muscle disorders characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.
  • Sequence similarities

    Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
    Contains 1 GRAM domain.
    Contains 1 myotubularin phosphatase domain.
  • Domain

    The GRAM domain mediates binding to PI(3,5)P2 and, with lower affinity, to other phosphoinositides.
  • Cellular localization

    Cytoplasm. Cell membrane. Cell projection > filopodium. Cell projection > ruffle. Late endosome. Localizes as a dense cytoplasmic network. Also localizes to the plasma membrane, including plasma membrane extensions such as filopodia and ruffles. Predominantly located in the cytoplasm following interaction with MTMR12. Recruited to the late endosome following EGF stimulation.
  • Information by UniProt
  • Database links

  • Alternative names

    • AF073996 antibody
    • CG2 antibody
    • CNM antibody
    • KIAA4176 antibody
    • mKIAA4176 antibody
    • Mtm antibody
    • Mtm1 antibody
    • MTM1_HUMAN antibody
    • MTMX antibody
    • Myotubular myopathy 1 antibody
    • Myotubularin antibody
    • XLMTM antibody
    see all

Images

  • Paraffin-embedded human kidney tissue stained for MTM1 using ab223719 at 1/200 dilution in immunohistochemical analysis.

  • PFA-fixed, Triton X-100 permeabilized U-251 MG (human brain glioma cell line) cells stained for MTM1 (green) using ab223719 at 4 µg/ml in ICC/IF.

References

ab223719 has not yet been referenced specifically in any publications.

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