Synonyms:CNM, ENTREZ:4534, HGNC:7448, MIM:300415, MTM1, MTMX, NM_000252, NM_001376906, NM_001376907, NM_001376908, NP_000243, NP_001363835, NP_001363836, NP_001363837, XLMTM, XM_005274687, XM_011531171, XM_011531172, XM_017029547, XM_017029548, XM_017029551, XP_005274744, XP_011529473, XP_011529474, XP_016885036, XP_016885037, XP_016885040, myotubularin 1
Omim:OMIM:300415
Id:ENSG00000171100
Hgnc:HGNC:7448
Description:myotubularin 1
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]