Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MEEPPLLPGENIKDMAKDVTYICPFTGAVRGTLTVTNYRLYFKSMERDPP FVLDASLGVINRVEKIGGASSRGENSYGLETVCKDIRNLRFAHKPEGRTR RSIFENLMKYAFPVSNNLPLFAFEYKEVFPENGWKLYDPLLEYRRQGIPN ESWRITKINERYELCDTYPALLVVPANIPDEELKRVASFRSRGRIPVLSW IHPESQATITRCSQPMVGVSGKRSKEDEKYLQAIMDSNAQSHKIFIFDAR PSVNAVANKAKGGGYESEDAYQNAELVFLDIHNIHVMRESLRKLKEIVYP NIEETHWLSNLESTHWLEHIKLILAGALRIADKVESGKTSVVVHCSDGWD RTAQLTSLAMLMLDGYYRTIRGFEVLVEKEWLSFGHRFQLRVGHGDKNHA DADRSPVFLQFIDCVWQMTRQFPTAFEFNEYFLITILDHLYSCLFGTFLC NSEQQRGKENLPKRTVSLWSYINSQLEDFTNPLYGSYSNHVLYPVASMRH LELWVGYYIRWNPRMKPQEPIHNRYKELLAKRAELQKKVEELQREISNRS TSSSERASSPAQCVTPVQTVV
    • Amino acids
      1 to 571
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab160254 in the following tested applications.

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

  • Applications

    ELISA

    Western blot

  • 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
    • CMT4B
    • CMT4B1
    • KIAA1073
    • MTMR2
    • MTMR2_HUMAN
    • Myotubularin related protein 2
    • Myotubularin-related protein 2
    • OTTHUMP00000204445
    • OTTHUMP00000204446
    • OTTHUMP00000204447
    • OTTHUMP00000204448
    • Phosphatidylinositol 3 phosphate phosphatase
    • Phosphatidylinositol 3,5 bisphosphate 3 phosphatase
    see all
  • Function
    Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate.
  • Involvement in disease
    Defects in MTMR2 are the cause of Charcot-Marie-Tooth disease type 4B1 (CMT4B1) [MIM:601382]. CMT4B1 is a recessive, severe form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention, autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
  • 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 coiled-coil domain mediates interaction with SBF2.
  • Cellular localization
    Cytoplasm. Membrane. Partly associated with membranes.
  • Information by UniProt

Images

  • ab160254 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab160254 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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