MTM1 cdna clone
MTM1 cDNA Clone
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 MTM1
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Product Notes
The MTM1 mtm1 (Catalog #AAA1265946) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atggcttctg catcaacttc taaatataat tcacactcct tggagaatga gtctattaag aggacgtctc gagatggagt caatcgagat ctcactgagg ctgttcctcg acttccagga gaaacactaa tcactgacaa agaagttatt tacatatgtc ctttcaatgg ccccattaag ggaagagttt acatcacaaa ttatcgtctt tatttaagaa gtttggaaac ggattcttct ctaatacttg atgttcctct gggtgtgatc tcgagaattg aaaaaatggg aggcgcgaca agtagaggag aaaattccta tggtctagat attacttgta aagacatgag aaacctgagg ttcgctttga aacaggaagg ccacagcaga agagatatgt ttgagatcct cacgagatac gcgtttcccc tggctcacag tctgccatta tttgcatttt taaatgaaga aaagtttaac gtggatggat ggacagttta caatccagtg gaagaataca ggaggcaggg cttgcccaat caccattgga gaataacttt tattaataag tgctatgagc tctgtgacac ttaccctgct cttttggtgg ttccgtatcg tgcctcagat gatgacctcc ggagagttgc aacttttagg tcccgaaatc gaattccagt gctgtcatgg attcatccag aaaataagac ggtcattgtg cgttgcagtc agcctcttgt cggtatgagt gggaaacgaa ataaagatga tgagaaatat ctcgatgtta tcagggagac taataaacaa atttctaaac tcaccattta tgatgcaaga cccagcgtaa atgcagtggc caacaaggca acaggaggag gatatgaaag tgatgatgca tatcataacg ccgaactttt cttcttagac attcataata ttcatgttat gcgggaatct ttaaaaaaag tgaaggacat tgtttatcct aatgtagaag aatctcattg gttgtccagt ttggagtcta ctcattggtt agaacatatc aagctcgttt tgacaggagc cattcaagta gcagacaaag tttcttcagg gaagagttca gtgcttgtgc attgcagtga cggatgggac aggactgctc agctgacatc cttggccatg ctgatgttgg atagcttcta taggagcatt gaagggttcg aaatactggt acaaaaaaaa tggataagtt ttggacataa atttgcatct cgaataggtc atggtgataa aaaccacacc gatgctgacc gttctcctat ttttctccag tttattgatt gtgtgtggca aatgtcaaaa cagttcccta cagcttttga attcaatgaa caatttttga ttataatttt ggatcatctg tatagttgcc gatttggtac tttcttattc aactgtgaat ctgctcgaga aagacagaag gttacagaaa ggactgtttc tttatggtca ctgataaaca gtaataaaga aaaattcaaa aaccccttct atactaaaga aatcaatcga gttttatatc cagttgccag tatgcgtcac ttggaactct gggtgaatta ctacattaga tggaacccca ggatcaagca acaacagccg aatccagtgg agcagcgtta catggagctc ttagccttac gcgacgaata cataaagcgg cttgaggaac tgcagctcgc caactctgcc aagctttctg atcccccaac ttcaccttcc agtccttcgc aaatgatgcc ccatgtgcaa actcacttct ga. It is sometimes possible for the material contained within the vial of "MTM1, cDNA Clone" 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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Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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