This gene is a member of a gene family that encodes lipid phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.[5]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000171100 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000031337 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Wishart MJ, Dixon JE (2003). "PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease". Trends Cell Biol. 12 (12): 579–85. doi:10.1016/S0962-8924(02)02412-1. PMID 12495846.
Laporte J, Bedez F, Bolino A, Mandel JL (2004). "Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases". Hum. Mol. Genet. 12. Spec No 2 (90002): R285–92. doi:10.1093/hmg/ddg273. PMID 12925573.
Kovács SK, Korcsik J, Szabó H, et al. (2007). "[Myotubular myopathy. Case report and review of the literature]". Orvosi Hetilap. 148 (37): 1757–62. doi:10.1556/OH.2007.28054. PMID 17827085.
Magnussen E (1975). "[In memoriam: Elisabeth Larsen]". Sygeplejersken. 75 (9): 16–7. PMID 1090027.
Liechti-Gallati S, Müller B, Grimm T, et al. (1992). "X-linked centronuclear myopathy: mapping the gene to Xq28". Neuromuscul. Disord. 1 (4): 239–45. doi:10.1016/0960-8966(91)90096-B. PMID 1822801. S2CID 34044731.
Laporte J, Hu LJ, Kretz C, et al. (1996). "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast". Nat. Genet. 13 (2): 175–82. doi:10.1038/ng0696-175. PMID 8640223. S2CID 30028223.
de Gouyon BM, Zhao W, Laporte J, et al. (1998). "Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy". Hum. Mol. Genet. 6 (9): 1499–504. doi:10.1093/hmg/6.9.1499. PMID 9285787.
Laporte J, Guiraud-Chaumeil C, Vincent MC, et al. (1998). "Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center". Hum. Mol. Genet. 6 (9): 1505–11. doi:10.1093/hmg/6.9.1505. PMID 9305655.
Tanner SM, Laporte J, Guiraud-Chaumeil C, Liechti-Gallati S (1998). "Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene". Hum. Mutat. 11 (1): 62–8. doi:10.1002/(SICI)1098-1004(1998)11:1<62::AID-HUMU10>3.0.CO;2-X. PMID 9450905. S2CID 39568857.
Cui X, De Vivo I, Slany R, et al. (1998). "Association of SET domain and myotubularin-related proteins modulates growth control". Nat. Genet. 18 (4): 331–7. doi:10.1038/ng0498-331. PMID 9537414. S2CID 25209204.
Laporte J, Blondeau F, Buj-Bello A, et al. (1998). "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human". Hum. Mol. Genet. 7 (11): 1703–12. doi:10.1093/hmg/7.11.1703. PMID 9736772.
Laporte J, Guiraud-Chaumeil C, Tanner SM, et al. (1998). "Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy". Eur. J. Hum. Genet. 6 (4): 325–30. doi:10.1038/sj.ejhg.5200189. PMID 9781038.
Kioschis P, Wiemann S, Heiss NS, et al. (1999). "Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)". Genomics. 54 (2): 256–66. doi:10.1006/geno.1998.5560. PMID 9828128.
Nishino I, Minami N, Kobayashi O, et al. (1999). "MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy". Neuromuscul. Disord. 8 (7): 453–8. doi:10.1016/S0960-8966(98)00075-3. PMID 9829274. S2CID 7841418.
Tanner SM, Schneider V, Thomas NS, et al. (1999). "Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients". Neuromuscul. Disord. 9 (1): 41–9. doi:10.1016/S0960-8966(98)00090-X. PMID 10063835. S2CID 10574620.
Buj-Bello A, Biancalana V, Moutou C, et al. (1999). "Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy". Hum. Mutat. 14 (4): 320–5. doi:10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O. PMID 10502779. S2CID 6417585.
Taylor GS, Maehama T, Dixon JE (2000). "Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate". Proc. Natl. Acad. Sci. U.S.A. 97 (16): 8910–5. Bibcode:2000PNAS...97.8910T. doi:10.1073/pnas.160255697. PMC16795. PMID 10900271.
External linksedit
GeneReviews/NCBI/NIH/UW entry on X-Linked Myotubular Myopathy or Centronuclear Myopathy
This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.
myotubularin, 1996, racing, video, game, monster, truck, madness, myotubularin, protein, that, humans, encoded, mtm1, gene, mtm1identifiersaliasesmtm1, mtmx, xlmtm, myotubularin, cnmxexternal, idsomim, 300415, 1099452, homologene, 37279, genecards, mtm1, mtm1,. For the 1996 racing video game see Monster Truck Madness Myotubularin is a protein that in humans is encoded by the MTM1 gene 5 MTM1IdentifiersAliasesMTM1 CNM MTMX XLMTM Myotubularin 1 myotubularin CNMXExternal IDsOMIM 300415 MGI 1099452 HomoloGene 37279 GeneCards MTM1 OMA MTM1 orthologsGene location Human Chr X chromosome human 1 BandXq28Start150 568 417 bp 1 End150 673 143 bp 1 Gene location Mouse Chr X chromosome mouse 2 BandX A7 2 A7 3 X 36 55 cMStart70 254 373 bp 2 End70 359 297 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insecondary oocyterectumgerminal epitheliummonocytejejunal mucosaAchilles tendonbone marrow cellsright adrenal glandleft adrenal glandhair follicleTop expressed inleft colonjejunumileumsoleus musclecerebellar vermisbrown adipose tissuemyocardium of ventricledigastric musclethoracic diaphragmintercostal muscleMore reference expression dataBioGPSn aGene ontologyMolecular functionphosphoprotein phosphatase activity intermediate filament binding phosphatase activity protein binding phosphatidylinositol binding protein tyrosine phosphatase activity hydrolase activity phosphatidylinositol 3 phosphatase activity phosphatidylinositol 3 5 bisphosphate 3 phosphatase activityCellular componentcytoplasm endosome late endosome cell projection membrane I band filopodium ruffle plasma membrane cytosol sarcomereBiological processnegative regulation of autophagosome assembly negative regulation of protein kinase B signaling muscle cell cellular homeostasis lipid metabolism protein dephosphorylation negative regulation of TOR signaling mitochondrion distribution negative regulation of proteasomal ubiquitin dependent protein catabolic process protein transport phosphatidylinositol biosynthetic process peptidyl tyrosine dephosphorylation mitochondrion morphogenesis positive regulation of skeletal muscle tissue growth dephosphorylation endosome to lysosome transport regulation of vacuole organization intermediate filament organization phosphatidylinositol dephosphorylationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez453417772EnsemblENSG00000171100ENSMUSG00000031337UniProtQ13496Q9Z2C5RefSeq mRNA NM 000252NM 001376906NM 001376907NM 001376908NM 001164190NM 001164191NM 001164192NM 001164193NM 019926NM 001358113RefSeq protein NP 000243NP 001363835NP 001363836NP 001363837NP 001157662NP 001157663NP 001157664NP 001157665NP 064310NP 001345042Location UCSC Chr X 150 57 150 67 MbChr X 70 25 70 36 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse This gene is a member of a gene family that encodes lipid phosphatases Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X linked myotubular myopathy 5 References edit a b c GRCh38 Ensembl release 89 ENSG00000171100 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000031337 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Entrez Gene MTM1 myotubularin 1 Further reading editLaporte J Biancalana V Tanner SM et al 2000 MTM1 mutations in X linked myotubular myopathy Hum Mutat 15 5 393 409 doi 10 1002 SICI 1098 1004 200005 15 5 lt 393 AID HUMU1 gt 3 0 CO 2 R PMID 10790201 S2CID 27091541 Wishart MJ Dixon JE 2003 PTEN and myotubularin phosphatases from 3 phosphoinositide dephosphorylation to disease Trends Cell Biol 12 12 579 85 doi 10 1016 S0962 8924 02 02412 1 PMID 12495846 Laporte J Bedez F Bolino A Mandel JL 2004 Myotubularins a large disease associated family of cooperating catalytically active and inactive phosphoinositides phosphatases Hum Mol Genet 12 Spec No 2 90002 R285 92 doi 10 1093 hmg ddg273 PMID 12925573 Kovacs SK Korcsik J Szabo H et al 2007 Myotubular myopathy Case report and review of the literature Orvosi Hetilap 148 37 1757 62 doi 10 1556 OH 2007 28054 PMID 17827085 Magnussen E 1975 In memoriam Elisabeth Larsen Sygeplejersken 75 9 16 7 PMID 1090027 Liechti Gallati S Muller B Grimm T et al 1992 X linked centronuclear myopathy mapping the gene to Xq28 Neuromuscul Disord 1 4 239 45 doi 10 1016 0960 8966 91 90096 B PMID 1822801 S2CID 34044731 Laporte J Hu LJ Kretz C et al 1996 A gene mutated in X linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast Nat Genet 13 2 175 82 doi 10 1038 ng0696 175 PMID 8640223 S2CID 30028223 de Gouyon BM Zhao W Laporte J et al 1998 Characterization of mutations in the myotubularin gene in twenty six patients with X linked myotubular myopathy Hum Mol Genet 6 9 1499 504 doi 10 1093 hmg 6 9 1499 PMID 9285787 Laporte J Guiraud Chaumeil C Vincent MC et al 1998 Mutations in the MTM1 gene implicated in X linked myotubular myopathy ENMC International Consortium on Myotubular Myopathy European Neuro Muscular Center Hum Mol Genet 6 9 1505 11 doi 10 1093 hmg 6 9 1505 PMID 9305655 Tanner SM Laporte J Guiraud Chaumeil C Liechti Gallati S 1998 Confirmation of prenatal diagnosis results of X linked recessive myotubular myopathy by mutational screening and description of three new mutations in the MTM1 gene Hum Mutat 11 1 62 8 doi 10 1002 SICI 1098 1004 1998 11 1 lt 62 AID HUMU10 gt 3 0 CO 2 X PMID 9450905 S2CID 39568857 Cui X De Vivo I Slany R et al 1998 Association of SET domain and myotubularin related proteins modulates growth control Nat Genet 18 4 331 7 doi 10 1038 ng0498 331 PMID 9537414 S2CID 25209204 Laporte J Blondeau F Buj Bello A et al 1998 Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human Hum Mol Genet 7 11 1703 12 doi 10 1093 hmg 7 11 1703 PMID 9736772 Laporte J Guiraud Chaumeil C Tanner SM et al 1998 Genomic organization of the MTM1 gene implicated in X linked myotubular myopathy Eur J Hum Genet 6 4 325 30 doi 10 1038 sj ejhg 5200189 PMID 9781038 Kioschis P Wiemann S Heiss NS et al 1999 Genomic organization of a 225 kb region in Xq28 containing the gene for X linked myotubular myopathy MTM1 and a related gene MTMR1 Genomics 54 2 256 66 doi 10 1006 geno 1998 5560 PMID 9828128 Nishino I Minami N Kobayashi O et al 1999 MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy Neuromuscul Disord 8 7 453 8 doi 10 1016 S0960 8966 98 00075 3 PMID 9829274 S2CID 7841418 Tanner SM Schneider V Thomas NS et al 1999 Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X linked myotubular myopathy patients Neuromuscul Disord 9 1 41 9 doi 10 1016 S0960 8966 98 00090 X PMID 10063835 S2CID 10574620 Hane BG Rogers RC Schwartz CE 1999 Germline mosaicism in X linked myotubular myopathy Clin Genet 56 1 77 81 doi 10 1034 j 1399 0004 1999 560111 x PMID 10466421 S2CID 826588 Buj Bello A Biancalana V Moutou C et al 1999 Identification of novel mutations in the MTM1 gene causing severe and mild forms of X linked myotubular myopathy Hum Mutat 14 4 320 5 doi 10 1002 SICI 1098 1004 199910 14 4 lt 320 AID HUMU7 gt 3 0 CO 2 O PMID 10502779 S2CID 6417585 Taylor GS Maehama T Dixon JE 2000 Inaugural article myotubularin a protein tyrosine phosphatase mutated in myotubular myopathy dephosphorylates the lipid second messenger phosphatidylinositol 3 phosphate Proc Natl Acad Sci U S A 97 16 8910 5 Bibcode 2000PNAS 97 8910T doi 10 1073 pnas 160255697 PMC 16795 PMID 10900271 External links editGeneReviews NCBI NIH UW entry on X Linked Myotubular Myopathy or Centronuclear Myopathy nbsp This article on a gene on the human X chromosome and or its associated protein is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Myotubularin 1 amp oldid 1136148259, wikipedia, wiki, book, books, library,
