Gene Symbol: Mtmr2
Description: myotubularin related protein 2
Alias: myotubularin-related protein 2
Species: rat
Products:     Mtmr2

Top Publications

  1. Bolis A, Coviello S, Visigalli I, Taveggia C, Bachi A, Chishti A, et al. Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination. J Neurosci. 2009;29:8858-70 pubmed publisher
    ..We previously reported that loss of myotubularin-related protein 2 (MTMR2) provokes autosomal recessive demyelinating Charcot-Marie-Tooth type 4B1 neuropathy, characterized by excessive ..
  2. Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U. Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Hum Mol Genet. 2006;15:569-79 pubmed
    Mutations in myotubularin-related protein-2 (MTMR2) or MTMR13/set-binding factor-2 (SBF2) genes are responsible for the severe autosomal recessive hereditary neuropathies, Charcot-Marie-Tooth disease (CMT) types 4B1 and 4B2, both ..
  3. Lee H, Kim Y, Han K, Kim H, Kim E. The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic. J Neurosci. 2010;30:5508-18 pubmed publisher
    b>MTMR2 is a 3-phosphatase specific for the phosphoinositides PI(3)P and PI(3,5)P(2), which are mainly present on endosomes...
  4. Kim S, Vacratsis P, Firestein R, Cleary M, Dixon J. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Proc Natl Acad Sci U S A. 2003;100:4492-7 pubmed
    ..In this study, we identified a protein that specifically interacts with MTMR2 but not MTM1...
  5. Previtali S, Zerega B, Sherman D, Brophy P, Dina G, King R, et al. Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Hum Mol Genet. 2003;12:1713-23 pubmed
    ..autosomal-recessive, demyelinating peripheral neuropathy, due to mutations in the Myotubularin-related 2 gene, MTMR2. MTMR2 is widely expressed and encodes a phosphatase whose substrates include phosphoinositides...
  6. Lorenzo O, Urbé S, Clague M. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. J Cell Sci. 2006;119:2953-9 pubmed
    ..All active MTMs we have tested (MTM1, MTMR2-MTMR4) reduce endosomal PtdIns3P levels upon overexpression...
  7. Xhabija B, Taylor G, Fujibayashi A, Sekiguchi K, Vacratsis P. Receptor mediated endocytosis 8 is a novel PI(3)P binding protein regulated by myotubularin-related 2. FEBS Lett. 2011;585:1722-8 pubmed publisher
    b>Myotubularin related protein 2 (MTMR2) is a member of the myotubularin family of phosphoinositide lipid phosphatases...
  8. Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, et al. Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. PLoS Genet. 2011;7:e1002319 pubmed publisher
    ..recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin outfoldings is caused by loss of MTMR2 (Myotubularin-related 2) in humans, and we created a faithful mouse model of the disease...