MTMR2
Description
The MTMR2 (myotubularin related protein 2) is a protein-coding gene located on chromosome 11.
MTMR2 is a protein encoded by the MTMR2 gene in humans. It belongs to the myotubularin family and functions as a putative tyrosine phosphatase. MTMR2 contains a GRAM domain. Mutations in the MTMR2 gene cause Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Multiple alternatively spliced transcript variants of MTMR2 have been identified, but the biological validity of some variants remains unclear. MTMR2 has been shown to interact with SBF1.
MTMR2 is a phosphatase that acts on lipids containing a phosphoinositol headgroup. It exhibits phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. MTMR2 also binds to phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate, and phosphatidylinositol 3,4,5-trisphosphate. It stabilizes SBF2/MTMR13 at membranes, particularly in peripheral nerves, contributing to the stability of the SBF2/MTMR13 protein.
MTMR2 is also known as CMT4B, CMT4B1.
