MTMR2

myotubularin related protein 2

Myotubularin-related protein 2 (MTMR2), a myotubularin-related phosphatase, has been shown to contain the consensus active site of dual specificity protein phosphatases (DSPs) and to share inhibition and inactivation characteristics with other DSPs. Similar to other myotubularin-related proteins, MTMR2 has been shown to possess a SET (Suvar3-9, Enhancer of zeste, trithorax)-interacting domain (SID) which may mediate interactions with SET domains present in chromatin-organizing nuclear proteins. Like myotubulin, MTMR2 has been shown to be highly specific for phosphatidylinositol 3-phosphatases as a substrate. Two alternatively spliced forms have been identified. MTMR2 has been identified as the gene responsible for Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive demyelinating neuropathy.

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