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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#



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