Gene Symbol | MTM1 |
Entrez Gene ID | 4534 |
Full Name | myotubularin 1 |
Synonyms | CNM,MTMX,XLMTM |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Myotubular myopathy, X-linked, 310400 (3) |