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Myotubularin (MTM1), 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 in vitro and in vivo. MTM1 also has been shown to possess a SET-interacting domain (SID) which is unique to myotubularin-related proteins. SID has been shown to mediate interactions in vitro with SET (Suvar3-9, Enhancer of zeste, trithorax) domains in nuclear proteins implicated in chromatin organization. Recent studies have indicated that MTM1 is also a lipid phosphatase, acting on phosphatidylinositol 3-monophosphate, and may regulate the phosphatidylinositol 3-kinase (PI 3-kinase) pathway and membrane trafficking. Additionally, myotubularin has been implicated in the regulation of cell growth and the release of spermatids. MTM1 has been identified as the locus containing mutations responsible for X-linked myotubular myopathy (XLMTM), and more than 130 different mutations have been identified in the MTM1 gene worldwide.
Gene Name: | myotubularin 1 |
Family/Subfamily: | Protein Phosphatase , Myotubularin-Related |
Synonyms: | MTM1, CNM, Mtmi, Myotubular myopathy 1, Myotubularin, Myotubularin 1, HMTM1, MTMX, XLMTM, CG2, RMTM |
Target Sequences: | NM_000252 NP_000243.1 Q13496 |
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