MTM1

Description

The MTM1 (myotubularin 1) is a protein-coding gene located on chromosome X.

The MTM1 gene provides instructions for producing an enzyme called myotubularin. Myotubularin is thought to be involved in the development and maintenance of muscle cells. This enzyme acts as a phosphatase, which means that it removes clusters of oxygen and phosphorus atoms (phosphate groups) from other molecules. Myotubularin removes phosphate groups from two molecules called phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-biphosphate. These molecules are found within cell membranes and are likely involved in transporting molecules within cells.

MTM1 encodes a lipid phosphatase that removes phosphate groups from phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). It also dephosphorylates phosphotyrosine- and phosphoserine-containing peptides. MTM1 negatively regulates EGFR degradation by controlling EGFR trafficking from the late endosome to the lysosome. It plays a role in vacuolar formation and morphology, regulates desmin intermediate filament assembly and architecture, and influences mitochondrial morphology and positioning. MTM1 is essential for skeletal muscle maintenance but not for myogenesis. In skeletal muscles, it stabilizes MTMR12 protein levels.

MTM1 is also known as CNM, CNMX, MTMX, XLMTM.

Associated Diseases

• X-linked centronuclear myopathy
• X-linked myotubular myopathy-abnormal genitalia syndrome
• Myopathy, centronuclear, X-linked
• X-linked myotubular myopathy