Gene Symbol: Mtmr2
Description: myotubularin related protein 2
Alias: myotubularin-related protein 2
Bolis A, Coviello S, Visigalli I, Taveggia C, Bachi A, Chishti A, et al
. Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination. J Neurosci. 2009;29:8858-70 pubmed publisher
..We previously reported that loss of myotubularin-related protein 2 (MTMR2) provokes autosomal recessive demyelinating Charcot-Marie-Tooth type 4B1 neuropathy, characterized by excessive ..
Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U. Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Hum Mol Genet. 2006;15:569-79 pubmed
Mutations in myotubularin-related protein-2 (MTMR2) or MTMR13/set-binding factor-2 (SBF2) genes are responsible for the severe autosomal recessive hereditary neuropathies, Charcot-Marie-Tooth disease (CMT) types 4B1 and 4B2, both ..
Lee H, Kim Y, Han K, Kim H, Kim E. The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic. J Neurosci. 2010;30:5508-18 pubmed publisher
b>MTMR2 is a 3-phosphatase specific for the phosphoinositides PI(3)P and PI(3,5)P(2), which are mainly present on endosomes...
Kim S, Vacratsis P, Firestein R, Cleary M, Dixon J. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Proc Natl Acad Sci U S A. 2003;100:4492-7 pubmed
..In this study, we identified a protein that specifically interacts with MTMR2 but not MTM1...
Previtali S, Zerega B, Sherman D, Brophy P, Dina G, King R, et al
. Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Hum Mol Genet. 2003;12:1713-23 pubmed
..autosomal-recessive, demyelinating peripheral neuropathy, due to mutations in the Myotubularin-related 2 gene, MTMR2. MTMR2 is widely expressed and encodes a phosphatase whose substrates include phosphoinositides...
Lorenzo O, Urbé S, Clague M. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. J Cell Sci. 2006;119:2953-9 pubmed
..All active MTMs we have tested (MTM1, MTMR2-MTMR4) reduce endosomal PtdIns3P levels upon overexpression...
Xhabija B, Taylor G, Fujibayashi A, Sekiguchi K, Vacratsis P. Receptor mediated endocytosis 8 is a novel PI(3)P binding protein regulated by myotubularin-related 2. FEBS Lett. 2011;585:1722-8 pubmed publisher
b>Myotubularin related protein 2 (MTMR2) is a member of the myotubularin family of phosphoinositide lipid phosphatases...
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...