Encyclopedia
myotubularin 1
- genes
1. Introduction
The MTM1 gene provides instructions for producing an enzyme called myotubularin. Myotubularin is thought to be involved in the development and maintenance of muscle cells. This enzyme acts as a phosphatase, which means that it removes clusters of oxygen and phosphorus atoms (phosphate groups) from other molecules. Myotubularin removes phosphate groups from two molecules called phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-biphosphate. These molecules are found within cell membranes and are likely involved in transporting molecules within cells.
2. Health Conditions Related to Genetic Changes
2.1. X-linked myotubular myopathy
More than 200 mutations in the MTM1 gene have been found to cause X-linked myotubular myopathy. Some MTM1 gene mutations change one of the protein building blocks (amino acids) in myotubularin, while other mutations result in an abnormally short, nonfunctional enzyme. The MTM1 gene mutations that prevent the production of any functional myotubularin tend to result in a more severe disease. Individuals who are mildly affected tend to have an MTM1 mutation that allows some functional myotubularin to be produced.
Mutations in the MTM1 gene are thought to disrupt myotubularin's role in muscle cell development and maintenance, causing muscle weakness and other signs and symptoms of X-linked myotubular myopathy.
3. Other Names for This Gene
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CNM
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MTM1_HUMAN
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MTMX
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myotubularin
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XLMTM
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/mtm1
References
- Begley MJ, Dixon JE. The structure and regulation of myotubularinphosphatases. Curr Opin Struct Biol. 2005 Dec;15(6):614-20.Review.
- Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR,Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL. Characterisation ofmutations in 77 patients with X-linked myotubular myopathy, including a familywith a very mild phenotype. Hum Genet. 2003 Feb;112(2):135-42.
- McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M,Krawczak M, Thomas N, Herman G, Clarke A, Wallgren-Pettersson C.Genotype-phenotype correlations in X-linked myotubular myopathy. NeuromusculDisord. 2002 Dec;12(10):939-46.
- Robinson FL, Dixon JE. Myotubularin phosphatases: policing3-phosphoinositides. Trends Cell Biol. 2006 Aug;16(8):403-12.Review.
- Tronchère H, Laporte J, Pendaries C, Chaussade C, Liaubet L, Pirola L, Mandel JL, Payrastre B. Production of phosphatidylinositol 5-phosphate by thephosphoinositide 3-phosphatase myotubularin in mammalian cells. J Biol Chem. 2004Feb 20;279(8):7304-12.
