Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVI YICPFNGPIKGRVYITNYRLYLRSLETDSSLILDVPLGVISRIEKMGGAT SRGENSYGLDITCKDMRNLRFALKQEGHSRRDMFEILTRYAFPLAHSLPL FAFLNEEKFNVDGWTVYNPVEEYRRQGLPNHHWRITFINKCYELCDTYPA LLVVPYRASDDDLRRVATFRSRNRIPVLSWIHPENKTVIVRCSQPLVGMS GKRNKDDEKYLDVIRETNKQISKLTIYDARPSVNAVANKATGGGYESDDA YHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSSLESTHWLEHI KLVLTGAIQVADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLMLDSFYRSI EGFEILVQKKWISFGHKFASRIGHGDKNHTDADRSPIFLQFIDCVWQMSK QFPTAFEFNEQFLIIILDHLYSCRFGTFLFNCESARERQKVTERTVSLWS LINSNKEKFKNPFYTKEINRVLYPVASMRHLELWVNYYIRWNPRIKQQQP NPVEQRYMELLALRDEYIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQ THF
    • Amino acids
      1 to 603
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab158930 in the following tested applications.

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

  • Applications

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

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

Images

  • ab158930 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab158930 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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