MTMR1 explained

Myotubularin-related protein 1 is a protein that in humans is encoded by the MTMR1 gene.^{[1] [2]}

This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined.^[2]

Further reading

• Laporte J . 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 . vanc. Hu LJ . Kretz C . 3 . Mandel . Jean-Louis . Kioschis . Petra . Coy . Johannes F. . Klauck . Sabine M. . Poustka . Annemarie . Dahl . Niklas . 30028223 .
• Laporte J . 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 . vanc. Blondeau F . Buj-Bello A . 3 . Tentler . D . Kretz . C . Dahl . N . Mandel . JL . free .
• Toward a complete human genome sequence . Genome Res. . 8 . 11 . 1097–108 . 1999 . 9847074 . 10.1101/gr.8.11.1097 . . free .
• Laporte J, Blondeau F, Buj-Bello A, Mandel JL . The myotubularin family: from genetic disease to phosphoinositide metabolism . Trends Genet. . 17 . 4 . 221–8 . 2001 . 11275328 . 10.1016/S0168-9525(01)02245-4 .
• Kim SA, Taylor GS, Torgersen KM, Dixon JE . Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease . J. Biol. Chem. . 277 . 6 . 4526–31 . 2002 . 11733541 . 10.1074/jbc.M111087200 . free .
• Laporte J . Functional redundancy in the myotubularin family . Biochem. Biophys. Res. Commun. . 291 . 2 . 305–12 . 2002 . 11846405 . 10.1006/bbrc.2002.6445 . vanc. Liaubet L . Blondeau F . 3 . Tronchère . Hélène . Mandel . Jean-Louis . Payrastre . Bernard .
• Buj-Bello A . Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells . Hum. Mol. Genet. . 11 . 19 . 2297–307 . 2003 . 12217958 . 10.1093/hmg/11.19.2297 . vanc. Furling D . Tronchère H . 3 . Laporte . J . Lerouge . T . Butler-Browne . GS . Mandel . JL . free .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .

Notes and References

1. Kioschis P, Wiemann S, Heiss NS, Francis F, Gotz C, Poustka A, Taudien S, Platzer M, Wiehe T, Beckmann G, Weber J, Nordsiek G, Rosenthal A . 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 . Jan 1999 . 9828128 . 10.1006/geno.1998.5560 .
2. Web site: Entrez Gene: MTMR1 myotubularin related protein 1.