Myotubularin 1

Myotubularin 1 (MTM1) is a protein that in humans is encoded by the MTM1 gene. This protein is a member of the myotubularin family and plays a key role in the regulation of intracellular membrane trafficking. Mutations in this gene are associated with X-linked centronuclear myopathy, also known as myotubular myopathy, a severe muscle disorder characterized by muscle weakness and structural abnormalities in muscle cells.

Function

The MTM1 protein is a phosphatase, an enzyme that removes phosphate groups from other molecules. Specifically, it dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, two types of phospholipids that are important for intracellular membrane trafficking. By regulating the levels of these phospholipids, MTM1 helps control the movement of proteins and other molecules within cells.

Clinical significance

Mutations in the MTM1 gene cause X-linked centronuclear myopathy (XL-CNM), a rare and severe muscle disorder. Symptoms of XL-CNM include muscle weakness, respiratory problems, and structural abnormalities in muscle cells. The disease is usually present at birth and primarily affects males.

Research

Research into MTM1 and its role in muscle function is ongoing. Understanding the molecular mechanisms of MTM1 function and dysfunction may lead to new treatments for XL-CNM and other muscle disorders.

See also

• Myotubular myopathy
• Phosphatase
• Phospholipid
• Gene