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Gene Review

Mtmr2  -  myotubularin related protein 2

Mus musculus

Synonyms: 6030445P13Rik, Myotubularin-related protein 2, Phosphatidylinositol-3,5-bisphosphate 3-phosphatase, Phosphatidylinositol-3-phosphate phosphatase
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Disease relevance of Mtmr2


High impact information on Mtmr2

  • Disruption of Mtmr2 in Schwann cells reproduces the myelin abnormalities [1].
  • Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis [1].
  • We also identified a novel physical interaction in Schwann cells, between Mtmr2 and discs large 1 (Dlg1)/synapse-associated protein 97, a scaffolding molecule that is enriched at the node/paranode region [1].
  • We propose that Schwann cell-autonomous loss of Mtmr2-Dlg1 interaction dysregulates membrane homeostasis in the paranodal region, thereby producing outfolding and recurrent loops of myelin [1].
  • Using several mutant forms of Mtmr2, we identified two domains that are necessary for membrane association: (i) A pleckstrin homology-GRAM domain; and (ii) a coiled-coil module [2].

Biological context of Mtmr2


Anatomical context of Mtmr2


  1. Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. Bolino, A., Bolis, A., Previtali, S.C., Dina, G., Bussini, S., Dati, G., Amadio, S., Del Carro, U., Mruk, D.D., Feltri, M.L., Cheng, C.Y., Quattrini, A., Wrabetz, L. J. Cell Biol. (2004) [Pubmed]
  2. Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module. Berger, P., Schaffitzel, C., Berger, I., Ban, N., Suter, U. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  3. Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B. Bolino, A., Marigo, V., Ferrera, F., Loader, J., Romio, L., Leoni, A., Di Duca, M., Cinti, R., Cecchi, C., Feltri, M.L., Wrabetz, L., Ravazzolo, R., Monaco, A.P. Gene (2002) [Pubmed]
  4. Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings. Bolis, A., Coviello, S., Bussini, S., Dina, G., Pardini, C., Previtali, S.C., Malaguti, M., Morana, P., Del Carro, U., Feltri, M.L., Quattrini, A., Wrabetz, L., Bolino, A. J. Neurosci. (2005) [Pubmed]
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