Myotubularin (MTM1) Antibody – Rabbit Polyclonal

MTM1: Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine- containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis. Defects in MTM1 are the cause of centronuclear myopathy X-linked (CNMX). A congenital muscle disorder characterized by progressive muscular. weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

Protein type: EC 3.1.3.64; EC 3.1.3.95; Motility/polarity/chemotaxis; Protein phosphatase, dual-specificity

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: cytoplasm; cytosol; filopodium; I band; late endosome; plasma membrane; ruffle

Molecular Function: intermediate filament binding; phosphatidylinositol-3-phosphatase activity; phosphoinositide binding; phosphoprotein phosphatase activity; protein binding; protein tyrosine phosphatase activity

Biological Process: endosome to lysosome transport; intermediate filament organization; mitochondrion distribution; muscle maintenance; phosphatidylinositol biosynthetic process; phosphoinositide dephosphorylation; phospholipid metabolic process; protein amino acid dephosphorylation; protein transport

Disease: Myopathy, Centronuclear, X-linked