MTM1 sirna

MTM1 siRNA (Human)

Cat. Num. AAA8201749

• Gene Names: MTM1; CNM; MTMX; XLMTM
• Reactivity: Human
• Applications: RNA Interference (RNAi)
• Purity: > 97%
• Synonyms: MTM1; MTM1 siRNA (Human); CG2; Myotubularin; MTM1 sirna

• Host: Synthetic
• Reactivity: Human
• Specificity: MTM1 siRNA (Human) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression.
• Purity/Purification: > 97%
• Form/Format: Lyophilized powder
• Sequence Length: 603

• Applicable Applications for MTM1 sirna: RNA Interference (RNAi)
• Quality Control: Oligonucleotide synthesis is monitored base by base through trityl analysis to ensure appropriate coupling efficiency. The oligo is subsequently purified by affinity-solid phase extraction. The annealed RNA duplex is further analyzed by mass spectrometry to verify the exact composition of the duplex. Each lot is compared to the previous lot by mass spectrometry to ensure maximum lot-to-lot consistency.
• Directions for Use: We recommends transfection with 100 nM siRNA 48 to 72 hours prior to cell lysis. Before resuspending, briefly centrifuge the tube to ensure the lyophilized siRNA is at the bottom of the tube. Resuspend the siRNA oligos to an appropriate concentration with DEPC water. For each vial, suitable for 250 transfections in 24 well plate (20 pmol for each well).
• Components: We offer pre-designed sets of 3 different target-specific siRNA oligo duplexes of human MTM1 gene. Each vial contains 5 nmol of lyophilized siRNA. The duplexes can be transfected individually or pooled together to achieve knockdown of the target gene, which is most commonly assessed by qPCR or western blot. Our siRNA oligos are also chemically modified (2'-OMe) at no extra charge for increased stability and enhanced knockdown in vitro and in vivo.
• Preparation and Storage: Shipped at 4 degree C. Store at -20 degree C for one year.

Related Product Information for MTM1 sirna

siRNA to inhibit MTM1 expression using RNA interference

NCBI and Uniprot Product Information

• NCBI GI #: 4557896
• NCBI GeneID: 4534
• NCBI Accession #: NP_000243.1
• NCBI GenBank Nucleotide #: NM_000252.2
• UniProt Accession #: Q13496; Q8NEL1; A6NDB1; B7Z491; F2Z330
• Molecular Weight: 66,053 Da
• NCBI Official Full Name: myotubularin
• NCBI Official Synonym Full Names: myotubularin 1
• NCBI Official Symbol: MTM1
• NCBI Official Synonym Symbols: CNM; MTMX; XLMTM
• NCBI Protein Information: myotubularin
• UniProt Protein Name: Myotubularin
• Protein Family: Myotubularin
• UniProt Gene Name: MTM1
• UniProt Synonym Gene Names: CG2
• UniProt Entry Name: MTM1_HUMAN

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; Motility/polarity/chemotaxis; EC 3.1.3.64

Chromosomal Location of Human Ortholog: Xq28

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

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

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

Disease: Myopathy, Centronuclear, X-linked