Entrez gene ID | | 4534 |
Official gene symbol | | MTM1 |
Full name | | myotubularin 1 |
Aliases | | ,CNM,MTMX,XLMTM, |
Gene 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] |
Location | | Chromosome: X Locus: Xq28 |
Gene position | | 149737047 - 149841616 Map Viewer |
Gene orientation | | plus |
Gene size | | 104570 bp |
Gene sequence |
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OMIM ID | | 300415 |
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