MTM1抗体

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     Gel: 8%SDS-PAGE, Lysate: 40 μg, Lane: Mouse thymus tissue lysate, Primary antibody: P01014(MTM1 Antibody) at dilution 1/200, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 10 minutes    

  
  

MTM1 (myotubularin 1) is a protein encoded by the *MTM1* gene, which belongs to the myotubularin family of lipid phosphatases. It primarily catalyzes the dephosphorylation of phosphatidylinositol 3-phosphate (PI3P) and phosphatidylinositol 3.5-bisphosphate (PI(3.5)P2), playing a critical role in intracellular membrane trafficking, endosomal dynamics, and autophagy. Mutations in *MTM1* are linked to X-linked myotubular myopathy (XLMTM), a severe congenital neuromuscular disorder characterized by skeletal muscle weakness, respiratory insufficiency, and delayed motor milestones, predominantly affecting males.

MTM1 antibodies are essential tools for studying the expression, localization, and function of the MTM1 protein in both normal and pathological contexts. These antibodies enable researchers to detect MTM1 in techniques like Western blotting, immunohistochemistry, and immunofluorescence, aiding in the diagnosis and mechanistic understanding of XLMTM. Additionally, they are used to investigate MTM1's interaction partners and regulatory pathways, particularly those involving phosphoinositide metabolism and muscle cell differentiation.

Research using MTM1 antibodies has also contributed to preclinical studies, including gene therapy and enzyme replacement strategies aimed at restoring MTM1 function in XLMTM models. Commercial MTM1 antibodies are typically validated for specificity using knockout controls or patient-derived cells with known mutations. Understanding MTM1's role continues to shed light on broader cellular processes and potential therapeutic targets for neuromuscular diseases.