Myotubularin 1
From Wikipedia, the free encyclopedia
Myotubularin 1
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Identifiers | ||||||||||||||
Symbol(s) | MTM1; CNM; MTMX; XLMTM | |||||||||||||
External IDs | OMIM: 300415 MGI: 1099452 HomoloGene: 37279 | |||||||||||||
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Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 4534 | 17772 | ||||||||||||
Ensembl | ENSG00000171100 | ENSMUSG00000031337 | ||||||||||||
Uniprot | Q13496 | Q5BKQ5 | ||||||||||||
Refseq | NM_000252 (mRNA) NP_000243 (protein) |
NM_019926 (mRNA) NP_064310 (protein) |
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Location | Chr X: 149.49 - 149.59 Mb | Chr X: 67.47 - 67.58 Mb | ||||||||||||
Pubmed search | [1] | [2] |
Myotubularin 1, also known as MTM1, is a human gene.[1]
This gene is a member of a gene family that encodes tyrosine 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]
[edit] References
[edit] Further reading
- Laporte J, Biancalana V, Tanner SM, et al. (2000). "MTM1 mutations in X-linked myotubular myopathy.". Hum. Mutat. 15 (5): 393–409. doi: . PMID 10790201.
- Wishart MJ, Dixon JE (2003). "PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease.". Trends Cell Biol. 12 (12): 579–85. 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: R285–92. doi: . 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: . 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. PMID 1822801.
- 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: . PMID 8640223.
- 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. 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. 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: . PMID 9450905.
- 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: . PMID 9537414.
- 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. 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: . 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: . 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. PMID 9829274.
- 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. PMID 10063835.
- Häne BG, Rogers RC, Schwartz CE (1999). "Germline mosaicism in X-linked myotubular myopathy.". Clin. Genet. 56 (1): 77–81. PMID 10466421.
- 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: . PMID 10502779.
- 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. doi: . PMID 10900271.