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MTM1
Sunday 30 November 2003
The phosphatase and tensin homolog deleted on chromosome ten (PTEN) and myotubularin (MTM1) represent subfamilies of protein tyrosine phosphatases whose principal physiological substrates are D3-phosphorylated inositol phospholipids.
As lipid phosphatases, PTEN- and MTM1-related (MTMRs) proteins dephosphorylate the products of phosphoinositide 3-kinases and antagonize downstream effectors that utilize 3-phosphoinositides as ligands for protein targeting domains or allosteric activation.
Pathology
X-linked myotubular myopathy (MIM.310400)
See also
myotubular myopathies
References
Wishart MJ, Dixon JE. PTEN and myotubularin phosphatases : from 3-phosphoinositide dephosphorylation to disease. Trends Cell Biol. 2002 Dec ;12(12):579-85. PMID : 12495846
Laporte J, Blondeau F, Buj-Bello A, Mandel JL. The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet. 2001 Apr;17(4):221-8. PMID: 11275328