Human recombinant MTM1 protein, AF

Myotubularin is a protein that plays a crucial role in cellular processes and is primarily associated with a rare genetic disorder called myotubular myopathy (MTM) . This disorder primarily affects skeletal muscles and is characterized by severe muscle weakness and impaired motor function. Myotubularin is an enzyme that regulates the levels of a lipid molecule called phosphatidylinositol 3-phosphate (PI3P) within cells. PI3P is involved in various cellular functions, including membrane trafficking and signaling pathways. Mutations in the gene encoding myotubularin lead to a deficiency or loss of its enzymatic activity, disrupting PI3P metabolism and causing the development of MTM.