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Myotubularin-related protein 1 (MTMR1), 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. MTMR1, a close human homolog of myotubularin (MTM1), has been shown to be an ancient duplication of MTM1 in the Xq28 chromosome region. Similar to other myotubularin-related proteins, MTMR1 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. Two splice variants of MTMR1 have been found. The specific function of MTMR1 has not been determined; however, it has been shown that this gene is not mutated in myotubular myopathy patients.
Gene Name: | myotubularin related protein 1 |
Family/Subfamily: | Protein Phosphatase , Myotubularin-Related |
Synonyms: | MTMR1, MTM-related phosphatase 1, Myotubularin related protein 1, Myotubularin-related protein 1 |
Target Sequences: | NM_003828 CAA12271.1 Q13613 |
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