Porcine Myotubularin Related Protein (MTMR1) ELISA Kit | MTMR1 elisa kit
Porcine Myotubularin Related Protein (MTMR1) ELISA Kit
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: Protein phosphatase, dual-specificity; EC 3.1.3.95; Motility/polarity/chemotaxis; EC 3.1.3.64
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: cytoplasm; cytosol; filopodium; late endosome; plasma membrane; ruffle
Molecular Function: intermediate filament binding; phosphatidylinositol-3-phosphatase activity; phosphoinositide binding; phosphoprotein phosphatase activity; protein binding
Biological Process: endosome to lysosome transport; intermediate filament organization; mitochondrion distribution; phosphatidylinositol biosynthetic process; phosphoinositide dephosphorylation; protein amino acid dephosphorylation
Disease: Myopathy, Centronuclear, X-linked
Research Articles on MTMR1
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Product Notes
The Porcine MTMR1 mtm1 (Catalog #AAA9371495) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9371495 ELISA Kit recognizes Porcine MTMR1. It is sometimes possible for the material contained within the vial of "Myotubularin Related Protein (MTMR1), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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