Myotubularin 1 Explained

Myotubularin is a protein that in humans is encoded by the MTM1 gene.^[1]

This gene is a member of a gene family that encodes lipid phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.^[1]

Further reading

• Laporte J, Biancalana V, Tanner SM, etal . MTM1 mutations in X-linked myotubular myopathy. . Hum. Mutat. . 15 . 5 . 393–409 . 2000 . 10790201 . 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R . 27091541 . free .
• Wishart MJ, Dixon JE . PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. . Trends Cell Biol. . 12 . 12 . 579–85 . 2003 . 12495846 . 10.1016/S0962-8924(02)02412-1 .
• Laporte J, Bedez F, Bolino A, Mandel JL . Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. . 12 . Hum. Mol. Genet. . Spec No 2 . 90002. R285–92 . 2004 . 12925573 . 10.1093/hmg/ddg273 . free .
• Kovács SK, Korcsik J, Szabó H, etal . [Myotubular myopathy. Case report and review of the literature] . Orvosi Hetilap . 148 . 37 . 1757–62 . 2007 . 17827085 . 10.1556/OH.2007.28054 .
• Magnussen E . [In memoriam: Elisabeth Larsen] . Sygeplejersken . 75 . 9 . 16–7 . 1975 . 1090027 .
• Liechti-Gallati S, Müller B, Grimm T, etal . X-linked centronuclear myopathy: mapping the gene to Xq28. . Neuromuscul. Disord. . 1 . 4 . 239–45 . 1992 . 1822801 . 10.1016/0960-8966(91)90096-B . 34044731 .
• Laporte J, Hu LJ, Kretz C, etal . A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. . Nat. Genet. . 13 . 2 . 175–82 . 1996 . 8640223 . 10.1038/ng0696-175 . 30028223 .
• de Gouyon BM, Zhao W, Laporte J, etal . Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. . Hum. Mol. Genet. . 6 . 9 . 1499–504 . 1998 . 9285787 . 10.1093/hmg/6.9.1499 . free .
• Laporte J, Guiraud-Chaumeil C, Vincent MC, etal . Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. . Hum. Mol. Genet. . 6 . 9 . 1505–11 . 1998 . 9305655 . 10.1093/hmg/6.9.1505 . free .
• Tanner SM, Laporte J, Guiraud-Chaumeil C, Liechti-Gallati S . Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. . Hum. Mutat. . 11 . 1 . 62–8 . 1998 . 9450905 . 10.1002/(SICI)1098-1004(1998)11:1<62::AID-HUMU10>3.0.CO;2-X . 39568857 .
• Cui X, De Vivo I, Slany R, etal . Association of SET domain and myotubularin-related proteins modulates growth control. . Nat. Genet. . 18 . 4 . 331–7 . 1998 . 9537414 . 10.1038/ng0498-331 . 25209204 .
• Laporte J, Blondeau F, Buj-Bello A, etal . Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. . Hum. Mol. Genet. . 7 . 11 . 1703–12 . 1998 . 9736772 . 10.1093/hmg/7.11.1703 . free .
• Laporte J, Guiraud-Chaumeil C, Tanner SM, etal . Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy. . Eur. J. Hum. Genet. . 6 . 4 . 325–30 . 1998 . 9781038 . 10.1038/sj.ejhg.5200189 . free .
• Kioschis P, Wiemann S, Heiss NS, etal . Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1). . Genomics . 54 . 2 . 256–66 . 1999 . 9828128 . 10.1006/geno.1998.5560 .
• Nishino I, Minami N, Kobayashi O, etal . MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. . Neuromuscul. Disord. . 8 . 7 . 453–8 . 1999 . 9829274 . 10.1016/S0960-8966(98)00075-3 . 7841418 . free .
• Tanner SM, Schneider V, Thomas NS, etal . Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. . Neuromuscul. Disord. . 9 . 1 . 41–9 . 1999 . 10063835 . 10.1016/S0960-8966(98)00090-X . 10574620 .
• Häne BG, Rogers RC, Schwartz CE . Germline mosaicism in X-linked myotubular myopathy. . Clin. Genet. . 56 . 1 . 77–81 . 1999 . 10466421 . 10.1034/j.1399-0004.1999.560111.x . 826588 .
• Buj-Bello A, Biancalana V, Moutou C, etal . Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. . Hum. Mutat. . 14 . 4 . 320–5 . 1999 . 10502779 . 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O . 6417585 .
• Taylor GS, Maehama T, Dixon JE . Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. . Proc. Natl. Acad. Sci. U.S.A. . 97 . 16 . 8910–5 . 2000 . 10900271 . 10.1073/pnas.160255697 . 16795 . 2000PNAS...97.8910T . free .
• Mansat M, Kpotor AO, Chicanne G, Picot M, Mazars A, Flores-Flores R, Payrastre B, Hnia K, Viaud J . MTM1-mediated production of phosphatidylinositol 5-phosphate fuels the formation of podosome-like protrusions regulating myoblast fusion. . Proc. Natl. Acad. Sci. U.S.A. . 97 . 16 . 8910–5 . 2024 . 38805272. 10.1073/pnas.2217971121. free . 11161799 .

External links

• GeneReviews/NCBI/NIH/UW entry on X-Linked Myotubular Myopathy or Centronuclear Myopathy

Notes and References

1. Web site: Entrez Gene: MTM1 myotubularin 1.