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Overview
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Myotubularin is a protein encoded by the MTM1 gene which is approximately 69, 9 kDa. Myotubularin is localised to the cytoplasm and cell membrane. It is involved in PI metabolism, inositol phosphate metabolism and glycerophospholipid biosynthesis. It negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. It also plays a role in mitochondrial morphology and positioning and is required for skeletal muscle maintenance. Myotubularin is expressed in the blood, nervous system and muscle. Mutations in the MTM1 gene may result in X-linked myopathy and Charcot-Marie-tooth disease. STJ94317 was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. This polyclonal antibody detects endogenous levels of Myotubularin protein.
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