Genomes and Genes
Gene Symbol: Mtmr2
Description: myotubularin related protein 2
Alias: 6030445P13Rik, myotubularin-related protein 2, phosphatidylinositol-3,5-bisphosphate 3-phosphatase, phosphatidylinositol-3-phosphate phosphatase
- Tersar K, Boentert M, Berger P, Bonneick S, Wessig C, Toyka K, et al. Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. Hum Mol Genet. 2007;16:2991-3001 pubmed..Mutations in the Myotubularin-Related Protein-2 (MTMR2) or MTMR13/Set-Binding Factor-2 (SBF2) genes are associated with the autosomal recessive disease subtypes CMT4B1 ..
- Dacci P, Dina G, Cerri F, Previtali S, Lopez I, Lauria G, et al. Foot pad skin biopsy in mouse models of hereditary neuropathy. Glia. 2010;58:2005-16 pubmed publisher..Our data indicate that SB may reveal distal axonal pathology in mouse models and permits sequential follow-up of the neuropathy in an individual mouse, thereby reducing the number of mice necessary to document pathology of the PNS. ..
- Ng A, Logan A, Schmidt E, Robinson F. The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression. Hum Mol Genet. 2013;22:1493-506 pubmed publisher..CMT4B results from mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2), phosphoinositide (PI) 3-phosphatases that dephosphorylate phosphatidylinositol 3-..
- 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. ..
- Raess M, Cowling B, Bertazzi D, Kretz C, Rinaldi B, Xuereb J, et al. Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy. Hum Mol Genet. 2017;26:3736-3748 pubmed publisher..called myotubular myopathy (or X-linked centronuclear myopathy) while mutations in the MTM1-related protein MTMR2 cause a recessive Charcot-Marie-Tooth peripheral neuropathy...
- Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, et al. Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. PLoS Genet. 2011;7:e1002319 pubmed publisher..recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin outfoldings is caused by loss of MTMR2 (Myotubularin-related 2) in humans, and we created a faithful mouse model of the disease...
- Xie Q, Yang Y, Huang J, Ninkovic J, Walcher T, Wolf L, et al. Pax6 interactions with chromatin and identification of its novel direct target genes in lens and forebrain. PLoS ONE. 2013;8:e54507 pubmed publisher..combined with in vivo Pax6-binding data yielded 76 putative Pax6-direct targets, including the Gaa, Isl1, Kif1b, Mtmr2, Pcsk1n, and Snca genes. RNA and ChIP data were validated for all these genes...
- Berger P, Tersar K, Ballmer Hofer K, Suter U. The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling. J Cell Mol Med. 2011;15:307-15 pubmed publisher..type 4B is caused by mutations in the genes encoding either the lipid phosphatase myotubularin-related protein-2 (MTMR2) or its regulatory binding partner MTMR13/SBF2...