MTMR2

Myotubularin related protein 2, also known as MTMR2, is a human gene.cite web | title = Entrez Gene: MTMR2 myotubularin related protein 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8898| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Multiple alternatively spliced transcript variants have been found, but the biological validity of some variants has not been determined.cite web | title = Entrez Gene: MTMR2 myotubularin related protein 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8898| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Previtali SC, Quattrini A, Bolino A |title=Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases. |journal=Expert reviews in molecular medicine |volume=9 |issue= 25 |pages= 1–16 |year= 2007 |pmid= 17880751 |doi= 10.1017/S1462399407000439
*cite journal | author=Begley MJ, Taylor GS, Brock MA, "et al." |title=Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 4 |pages= 927–32 |year= 2006 |pmid= 16410353 |doi= 10.1073/pnas.0510006103
*cite journal | author=Robinson FL, Dixon JE |title=The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. |journal=J. Biol. Chem. |volume=280 |issue= 36 |pages= 31699–707 |year= 2005 |pmid= 15998640 |doi= 10.1074/jbc.M505159200
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Begley MJ, Taylor GS, Kim SA, "et al." |title=Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome. |journal=Mol. Cell |volume=12 |issue= 6 |pages= 1391–402 |year= 2004 |pmid= 14690594 |doi=
*cite journal | author=Previtali SC, Zerega B, Sherman DL, "et al." |title=Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1713–23 |year= 2003 |pmid= 12837694 |doi=
*cite journal | author=Kim SA, Vacratsis PO, Firestein R, "et al." |title=Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 8 |pages= 4492–7 |year= 2003 |pmid= 12668758 |doi= 10.1073/pnas.0431052100
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Nelis E, Erdem S, Tan E, "et al." |title=A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. |journal=Neuromuscul. Disord. |volume=12 |issue= 9 |pages= 869–73 |year= 2003 |pmid= 12398840 |doi=
*cite journal | author=Bolino A, Muglia M, Conforti FL, "et al." |title=Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. |journal=Nat. Genet. |volume=25 |issue= 1 |pages= 17–9 |year= 2000 |pmid= 10802647 |doi= 10.1038/75542
*cite journal | author=Bolino A, Levy ER, Muglia M, "et al." |title=Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. |journal=Genomics |volume=63 |issue= 2 |pages= 271–8 |year= 2000 |pmid= 10673338 |doi= 10.1006/geno.1999.6088
*cite journal | author=Kikuno R, Nagase T, Ishikawa K, "et al." |title=Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=6 |issue= 3 |pages= 197–205 |year= 1999 |pmid= 10470851 |doi=
*cite journal | author=Laporte J, Blondeau F, Buj-Bello A, "et al." |title=Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. |journal=Hum. Mol. Genet. |volume=7 |issue= 11 |pages= 1703–12 |year= 1998 |pmid= 9736772 |doi=
*cite journal | author=Laporte J, Hu LJ, Kretz C, "et al." |title=A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. |journal=Nat. Genet. |volume=13 |issue= 2 |pages= 175–82 |year= 1996 |pmid= 8640223 |doi= 10.1038/ng0696-175

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