Protein Variants | Comment | Organism |
---|---|---|
DELTAF494-E531 | recessive Charcot-Marie-Tooth disease type 4B1 related mutation, almost complete loss of activity | Mus musculus |
E276X | recessive Charcot-Marie-Tooth disease type 4B1 related mutation, almost complete loss of activity | Mus musculus |
G103E | less than 5% residual activity | Mus musculus |
Q426X | recessive Charcot-Marie-Tooth disease type 4B1 related mutation, almost complete loss of activity | Mus musculus |
Q482X | recessive Charcot-Marie-Tooth disease type 4B1 related mutation, almost complete loss of activity | Mus musculus |
Y579Stop | recessive Charcot-Marie-Tooth disease type 4B1 related mutation, almost complete loss of activity | Mus musculus |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Mus musculus | Q9Z2D1 | isoform MTMR2 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
neuron | particularly high expression | Mus musculus | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O | - |
Mus musculus | 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate | no product: phosphatidylinositol | ? | |
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 | Comment | Organism |
---|---|---|
MTMR2 | - |
Mus musculus |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
7 | 7.5 | - |
Mus musculus |
General Information | Comment | Organism |
---|---|---|
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 |