Recombinant Human Myotubularin-related protein 2 (MTMR2)

Uniprot Id

Q13614

Target Species

Human

Target Name

MTMR2

Target Full Name

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2

Target Function

Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. Binds phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Stabilizes SBF2/MTMR13 at the membranes. Specifically in peripheral nerves, stabilizes SBF2/MTMR13 protein.

Target Involvement

Charcot-Marie-Tooth disease 4B1 (CMT4B1)

Target Subcellular Location

Cytoplasm. Early endosome membrane; Peripheral membrane protein. Cytoplasm, perinuclear region. Cell projection, axon. Endosome membrane; Peripheral membrane protein.

Target Protein Families

Protein-tyrosine phosphatase family, Non-receptor class myotubularin subfamily

Target Synonyms

CMT4B; CMT4B1; KIAA1073; MTMR2; MTMR2_HUMAN; Myotubularin related protein 2; Myotubularin-related protein 2; OTTHUMP00000204445; OTTHUMP00000204446; OTTHUMP00000204447; OTTHUMP00000204448; Phosphatidylinositol 3 phosphate phosphatase; Phosphatidylinositol 3,5 bisphosphate 3 phosphatase

Target Background

This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3, 5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene.