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Literature summary extracted from

  • Berger, P.; Bonneick, S.; Willi, S.; Wymann, M.; Suter, U.
    Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1 (2002), Hum. Mol. Genet., 11, 1569-1579.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
3.1.3.95 DELTAF494-E531 recessive Charcot-Marie-Tooth disease type 4B1 related mutation, almost complete loss of activity Mus musculus
3.1.3.95 E276X recessive Charcot-Marie-Tooth disease type 4B1 related mutation, almost complete loss of activity Mus musculus
3.1.3.95 G103E less than 5% residual activity Mus musculus
3.1.3.95 Q426X recessive Charcot-Marie-Tooth disease type 4B1 related mutation, almost complete loss of activity Mus musculus
3.1.3.95 Q482X recessive Charcot-Marie-Tooth disease type 4B1 related mutation, almost complete loss of activity Mus musculus
3.1.3.95 Y579Stop recessive Charcot-Marie-Tooth disease type 4B1 related mutation, almost complete loss of activity Mus musculus

Organism

EC Number Organism UniProt Comment Textmining
3.1.3.95 Mus musculus Q9Z2D1 isoform MTMR2
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.1.3.95 neuron particularly high expression Mus musculus
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.1.3.95 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O
-
 Mus musculus 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate no product: phosphatidylinositol ?
3.1.3.95 1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O 4fold lower rate of dephosphorylation compared with 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate Mus musculus 1-phosphatidyl-1D-myo-inositol + phosphate
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.1.3.95 MTMR2
-
 Mus musculus

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
3.1.3.95 7 7.5
-
 Mus musculus

General Information

EC Number General Information Comment Organism
3.1.3.95 physiological function mutations in the gene encoding myotubularin-related protein MTMR2 are responsible for autosomal recessive Charcot-Marie-Tooth disease type 4B1. The known disease-associated MTMR2 mutations lead to dramatically reduced phosphatase activity Mus musculus