MTMRs
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 (MTMR) 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.
Members
MTMR1
MTMR2 : mutations in Charcot-Marie-Tooth disease Type 4B1 (MIM.601382)
MTMR3
MTMR4
MTMR5
MTMR6
MTMR7
MTMR8
MTMR9
MTMR10
MTMR11
MTMR12
MTMR13 : mutations in the Charcot-Marie-Tooth disease associated with early-onset glaucoma
Pathology
MTMR2 gene (MIM.603557) codes for myotubularin-related protein-2 : mutations in the Charcot-Marie-Tooth disease Type 4B1 (MIM.601382)
MTMR13 : Charcot-Marie-Tooth disease associated with early-onset glaucoma (#12687498#)
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#