Gene Symbol: Mtmr1
Description: myotubularin related protein 1
Alias: AW049210, myotubularin-related protein 1, phosphatidylinositol-3,5-bisphosphate 3-phosphatase, phosphatidylinositol-3-phosphate phosphatase
Species: mouse
Products:     Mtmr1

Top Publications

  1. Blewitt M, Gendrel A, Pang Z, Sparrow D, Whitelaw N, Craig J, et al. SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation. Nat Genet. 2008;40:663-9 pubmed publisher
    ..This finding links a group of proteins normally associated with structural aspects of chromosome biology with epigenetic gene silencing. ..
  2. Laporte J, Blondeau F, Buj Bello A, Tentler D, Kretz C, Dahl N, et al. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998;7:1703-12 pubmed
    ..Comparison of the various genes allowed construction of a phylogenetic tree and reveals conserved residues which may be essential for function. These genes may be good candidates for other genetic diseases. ..
  3. Buj Bello A, Furling D, Tronchère H, Laporte J, Lerouge T, Butler Browne G, et al. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet. 2002;11:2297-307 pubmed
    The myotubularin-related 1 (MTMR1) gene belongs to a highly conserved family of eucaryotic phosphatases, with at least 11 members in humans...