Biology:Myotubularin 1
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Myotubularin is a protein that in humans is encoded by the MTM1 gene.[1]
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.[1]
References
Further reading
- "MTM1 mutations in X-linked myotubular myopathy.". Hum. Mutat. 15 (5): 393–409. 2000. doi:10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R. PMID 10790201.
- "PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease.". Trends Cell Biol. 12 (12): 579–85. 2003. doi:10.1016/S0962-8924(02)02412-1. PMID 12495846.
- "Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.". Hum. Mol. Genet.. 12 Spec No 2 (90002): R285–92. 2004. doi:10.1093/hmg/ddg273. PMID 12925573.
- "[Myotubular myopathy. Case report and review of the literature]". Orvosi Hetilap 148 (37): 1757–62. 2007. doi:10.1556/OH.2007.28054. PMID 17827085.
- Magnussen E (1975). "[In memoriam: Elisabeth Larsen]". Sygeplejersken 75 (9): 16–7. PMID 1090027.
- "X-linked centronuclear myopathy: mapping the gene to Xq28.". Neuromuscul. Disord. 1 (4): 239–45. 1992. doi:10.1016/0960-8966(91)90096-B. PMID 1822801.
- "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.". Nat. Genet. 13 (2): 175–82. 1996. doi:10.1038/ng0696-175. PMID 8640223.
- "Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.". Hum. Mol. Genet. 6 (9): 1499–504. 1998. doi:10.1093/hmg/6.9.1499. PMID 9285787.
- "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. 1998. doi:10.1093/hmg/6.9.1505. PMID 9305655.
- "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. 1998. doi:10.1002/(SICI)1098-1004(1998)11:1<62::AID-HUMU10>3.0.CO;2-X. PMID 9450905.
- "Association of SET domain and myotubularin-related proteins modulates growth control.". Nat. Genet. 18 (4): 331–7. 1998. doi:10.1038/ng0498-331. PMID 9537414.
- "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.". Hum. Mol. Genet. 7 (11): 1703–12. 1998. doi:10.1093/hmg/7.11.1703. PMID 9736772.
- "Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.". Eur. J. Hum. Genet. 6 (4): 325–30. 1998. doi:10.1038/sj.ejhg.5200189. PMID 9781038.
- "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. 1999. doi:10.1006/geno.1998.5560. PMID 9828128.
- "MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.". Neuromuscul. Disord. 8 (7): 453–8. 1999. doi:10.1016/S0960-8966(98)00075-3. PMID 9829274.
- "Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.". Neuromuscul. Disord. 9 (1): 41–9. 1999. doi:10.1016/S0960-8966(98)00090-X. PMID 10063835.
- "Germline mosaicism in X-linked myotubular myopathy.". Clin. Genet. 56 (1): 77–81. 1999. doi:10.1034/j.1399-0004.1999.560111.x. PMID 10466421.
- "Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.". Hum. Mutat. 14 (4): 320–5. 1999. doi:10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O. PMID 10502779.
- "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. 2000. doi:10.1073/pnas.160255697. PMID 10900271. Bibcode: 2000PNAS...97.8910T.
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