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myotubularins

 

Functions

-  a dual-specificity protein phosphatase

-  a lipid phosphatase

Pathology

-  myotubularin (MTM1) is mutated in myotubular myopathy
-  MTMR2 was recently found mutated in a recessive form of Charcot-Marie-Tooth neuropathy

References

-  Laporte J, Bedez F, Bolino A, Mandel JL. Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R285-92. PMID: #12925573#

-  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#



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