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Gene Review

MTM1  -  myotubularin 1

Homo sapiens

Synonyms: CG2, CNM, MTMX, Myotubularin, Phosphatidylinositol-3,5-bisphosphate 3-phosphatase, ...
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Disease relevance of MTM1


Psychiatry related information on MTM1


High impact information on MTM1


Chemical compound and disease context of MTM1


Biological context of MTM1


Anatomical context of MTM1

  • To this end, we have analyzed myotubularin and MTMR2 transcripts during induced differentiation of cultured murine C2C12 myoblasts and find that their expression is divergently regulated [18].
  • Because this lipid is implicated in the regulation of vesicular trafficking, we used established cell lines from XLMTM patients to evaluate whether the lack of endogenous MTM1 expression could affect PtdIns(3)P labeling patterns [19].
  • In L6 myotubes overexpressing MTM1, hyperosmotic shock induced an increase in the mass level of PtdIns(5)P that was reduced by 50% upon overexpression of the MTM1 inactive mutant D278A [19].
  • The F18 gene is a strong candidate for being implicated in the intersexual genitalia present in the two MTM1-deleted patients [20].
  • X-linked myotubular myopathy (MTM1) is a rare developmental disorder of skeletal muscle that is characterized by the presence of abnormal central nuclei in biopsy specimens taken from affected individuals [21].

Associations of MTM1 with chemical compounds


Physical interactions of MTM1

  • We have now identified myotubularin as the catalytically active 3-phosphatase subunit interacting with 3-PAP [23].

Other interactions of MTM1

  • PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease [24].
  • In this study, we identified a protein that specifically interacts with MTMR2 but not MTM1 [25].
  • Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15 [26].
  • We have investigated MTM1 and MTMR6 and find that they use PtdIns(3,5)P2 in addition to PtdIns3P as a substrate in vitro [13].
  • This inhibition is specific; MTM1, a closely related MTM, did not inhibit K(Ca)3 [27].

Analytical, diagnostic and therapeutic context of MTM1


  1. Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Taylor, G.S., Maehama, T., Dixon, J.E. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  2. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Blondeau, F., Laporte, J., Bodin, S., Superti-Furga, G., Payrastre, B., Mandel, J.L. Hum. Mol. Genet. (2000) [Pubmed]
  3. Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism. Tsai, T.C., Horinouchi, H., Noguchi, S., Minami, N., Murayama, K., Hayashi, Y.K., Nonaka, I., Nishino, I. Neuromuscul. Disord. (2005) [Pubmed]
  4. Prenatal diagnosis of X-linked myotubular myopathy: strategies using new and tightly linked DNA markers. Hu, L.J., Laporte, J., Kress, W., Dahl, N. Prenat. Diagn. (1996) [Pubmed]
  5. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Laporte, J., Guiraud-Chaumeil, C., Vincent, M.C., Mandel, J.L., Tanner, S.M., Liechti-Gallati, S., Wallgren-Pettersson, C., Dahl, N., Kress, W., Bolhuis, P.A., Fardeau, M., Samson, F., Bertini, E. Hum. Mol. Genet. (1997) [Pubmed]
  6. Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region. Dahl, N., Hu, L.J., Chery, M., Fardeau, M., Gilgenkrantz, S., Nivelon-Chevallier, A., Sidaner-Noisette, I., Mugneret, F., Gouyon, J.B., Gal, A. Am. J. Hum. Genet. (1995) [Pubmed]
  7. Job satisfaction of CNMs. Luxury or necessity? Collins, C. Journal of nurse-midwifery. (1990) [Pubmed]
  8. Nurse-midwives and obstetricians: alternative models of care and client "fit". Aaronson, L.S. Research in nursing & health. (1987) [Pubmed]
  9. PTEN and myotubularin: novel phosphoinositide phosphatases. Maehama, T., Taylor, G.S., Dixon, J.E. Annu. Rev. Biochem. (2001) [Pubmed]
  10. Association of SET domain and myotubularin-related proteins modulates growth control. Cui, X., De Vivo, I., Slany, R., Miyamoto, A., Firestein, R., Cleary, M.L. Nat. Genet. (1998) [Pubmed]
  11. P. falciparum CG2, linked to chloroquine resistance, does not resemble Na+/H+ exchangers. Wellems, T.E., Wootton, J.C., Fujioka, H., Su, X., Cooper, R., Baruch, D., Fidock, D.A. Cell (1998) [Pubmed]
  12. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Laporte, J., Hu, L.J., Kretz, C., Mandel, J.L., Kioschis, P., Coy, J.F., Klauck, S.M., Poustka, A., Dahl, N. Nat. Genet. (1996) [Pubmed]
  13. Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. Schaletzky, J., Dove, S.K., Short, B., Lorenzo, O., Clague, M.J., Barr, F.A. Curr. Biol. (2003) [Pubmed]
  14. MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. Nishino, I., Minami, N., Kobayashi, O., Ikezawa, M., Goto, Y., Arahata, K., Nonaka, I. Neuromuscul. Disord. (1998) [Pubmed]
  15. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Buj-Bello, A., Furling, D., Tronchère, H., Laporte, J., Lerouge, T., Butler-Browne, G.S., Mandel, J.L. Hum. Mol. Genet. (2002) [Pubmed]
  16. Diagnosis of X-linked myotubular myopathy by detection of myotubularin. Laporte, J., Kress, W., Mandel, J.L. Ann. Neurol. (2001) [Pubmed]
  17. Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1). Kioschis, P., Wiemann, S., Heiss, N.S., Francis, F., Götz, C., Poustka, A., Taudien, S., Platzer, M., Wiehe, T., Beckmann, G., Weber, J., Nordsiek, G., Rosenthal, A. Genomics (1998) [Pubmed]
  18. Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. Kim, S.A., Taylor, G.S., Torgersen, K.M., Dixon, J.E. J. Biol. Chem. (2002) [Pubmed]
  19. Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. Tronchère, H., Laporte, J., Pendaries, C., Chaussade, C., Liaubet, L., Pirola, L., Mandel, J.L., Payrastre, B. J. Biol. Chem. (2004) [Pubmed]
  20. Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. Laporte, J., Kioschis, P., Hu, L.J., Kretz, C., Carlsson, B., Poustka, A., Mandel, J.L., Dahl, N. Genomics (1997) [Pubmed]
  21. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Herman, G.E., Kopacz, K., Zhao, W., Mills, P.L., Metzenberg, A., Das, S. Hum. Mutat. (2002) [Pubmed]
  22. The myotubularin family: from genetic disease to phosphoinositide metabolism. Laporte, J., Blondeau, F., Buj-Bello, A., Mandel, J.L. Trends Genet. (2001) [Pubmed]
  23. Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. Nandurkar, H.H., Layton, M., Laporte, J., Selan, C., Corcoran, L., Caldwell, K.K., Mochizuki, Y., Majerus, P.W., Mitchell, C.A. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  24. PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. Wishart, M.J., Dixon, J.E. Trends Cell Biol. (2002) [Pubmed]
  25. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Kim, S.A., Vacratsis, P.O., Firestein, R., Cleary, M.L., Dixon, J.E. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  26. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Senderek, J., Bergmann, C., Weber, S., Ketelsen, U.P., Schorle, H., Rudnik-Schöneborn, S., Büttner, R., Buchheim, E., Zerres, K. Hum. Mol. Genet. (2003) [Pubmed]
  27. The phosphatidylinositol 3-phosphate phosphatase myotubularin- related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1. Srivastava, S., Li, Z., Lin, L., Liu, G., Ko, K., Coetzee, W.A., Skolnik, E.Y. Mol. Cell. Biol. (2005) [Pubmed]
  28. Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. Tanner, S.M., Laporte, J., Guiraud-Chaumeil, C., Liechti-Gallati, S. Hum. Mutat. (1998) [Pubmed]
  29. Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC). Flex, E., De Luca, A., D'Apice, M.R., Buccino, A., Dallapiccola, B., Novelli, G. Neuromuscul. Disord. (2002) [Pubmed]
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