MTM1 is a member of a protein family that encodes tyrosine phosphatases. Myotubularin is required for muscle cell differentiation and mutations in MTM1 have been identified as being responsible for X-linked myotubular myopathy. MTM1 is a potent phosphatidylinositol 3-phosphate phosphatase (PI(3)P). Mutations in the MTM1 gene that cause human myotubular myopathy dramatically reduce the ability of the phosphatase to dephosphorylate PI(3)P. The findings provided evidence that myotubularin exerts its effects during myogenesis by regulating the cellular levels of the inositol lipid PI(3)P.

HUMAN

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