Goat MTM1 Polyclonal Antibody | anti-MTM1 antibody
Goat anti-MTM1 Antibody
Western Blot: Approx 70kDa band observed in lysates of Human Skeletal Muscle, Mouse Heart and Skeletal Muscle and of cell line HepG2 (calculated MW of 69.9kDa according to NP_000243.1and 69.6kDa according to Mouse NP_001157662.1). Recommended concentration: 1-3ug/ml.
Western Blot (WB)
((0.3ug/ml) staining of Human Skeletal Muscle lysate (35ug protein in RIPA buffer). Primary incubation was 1 hour. Detected by chemiluminescence.)
Western Blot (WB)
((2ug/ml) staining of HepG2 cell lysate (35ug protein in RIPA buffer). Primary incubation was 1 hour. Detected by chemiluminescence.)
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
Uniprot Description
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 3.1.3.95; Protein phosphatase, dual-specificity; EC 3.1.3.64; Motility/polarity/chemotaxis
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; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; negative regulation of protein kinase B signaling cascade; negative regulation of TOR signaling pathway; phosphatidylinositol biosynthetic process; phosphoinositide dephosphorylation; positive regulation of skeletal muscle growth; protein amino acid dephosphorylation; protein transport
Disease: Myopathy, Centronuclear, X-linked