MTMR14 explained

Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.^[1]

Function

Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a phosphatidylinositol-3-phosphatase that dephosphorylates the same substrates as myotubularin, PtdIns(3)P and PtdIns(3,5)P₂.^[2]

Clinical significance

Mutations in the MTMR14 gene are associated with myotubular myopathy.^[2]

Further reading

• Yu W, Andersson B, Worley KC, etal . Large-scale concatenation cDNA sequencing. . Genome Res. . 7 . 4 . 353–8 . 1997 . 9110174 . 10.1101/gr.7.4.353. 139146 .
• Andersson B, Wentland MA, Ricafrente JY, etal . A "double adaptor" method for improved shotgun library construction. . Anal. Biochem. . 236 . 1 . 107–13 . 1996 . 8619474 . 10.1006/abio.1996.0138 .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 .
• Simpson JC, Wellenreuther R, Poustka A, etal . Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. . EMBO Rep. . 1 . 3 . 287–92 . 2000 . 11256614 . 10.1093/embo-reports/kvd058 . 1083732 .

Notes and References

1. Alonso A, Sasin J, Bottini N, Friedberg I, Friedberg I, Osterman A, Godzik A, Hunter T, Dixon J, Mustelin T . Protein tyrosine phosphatases in the human genome . Cell . 117 . 6 . 699–711 . June 2004 . 15186772 . 10.1016/j.cell.2004.05.018 . 18072568 . free .
2. Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J . A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy . Hum. Mol. Genet. . 15 . 21 . 3098–106 . November 2006 . 17008356 . 10.1093/hmg/ddl250 . free .