myotubularins
Functions
a dual-specificity protein phosphatase
- Most of myotubularins are characterized by the presence of a ten-amino acid consensus sequence related to the active sites of tyrosine phosphatases, dual-specificity protein phosphatases and the lipid phosphatase PTEN.
a lipid phosphatase
- Recent results indicate that it is primarily a lipid phosphatase, acting on phosphatidylinositol 3-monophosphate, and might be involved in the regulation of phosphatidylinositol 3-kinase (PI 3-kinase) pathway and membrane trafficking.
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#