Rabbit anti-Human, Mouse MTM1 Polyclonal Antibody | anti-MTM1 antibody

MTM1, CT (MTM1, CG2, Myotubularin) (MaxLight 550)

Cat. Num. AAA6322798

• Gene Names: MTM1; CNM; MTMX; XLMTM
• Reactivity: Human, Mouse
• Applications: Western Blot
• Purity: Purified by Protein G Affinity Chromatography.
• Synonyms: MTM1; Polyclonal Antibody; CT (MTM1; CG2; Myotubularin) (MaxLight 550); Myotubularin; anti-MTM1 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein G Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with MaxLight550.

• Applicable Applications for anti-MTM1 antibody: Western Blot (WB), FLISA
• Application Notes: WB: 1:100-500; FLISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: MTM1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 573~602 amino acids from the C-terminal region of human MTM1.
• Conjugate: MaxLight550
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: MaxLight550 conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Related Product Information for anti-MTM1 antibody

MTM1 is a member of a protein family that encodes tyrosine phosphatases. Myotubularin is required for muscle cell differentiation and mutations in MTM1 have been identified as being responsible for X-linked myotubular myopathy. MTM1 is a potent phosphatidylinositol 3-phosphate phosphatase (PI(3)P). Mutations in the MTM1 gene that cause human myotubular myopathy dramatically reduce the ability of the phosphatase to dephosphorylate PI(3)P. The findings provided evidence that myotubularin exerts its effects during myogenesis by regulating the cellular levels of the inositol lipid PI(3)P.

Product Categories/Family for anti-MTM1 antibody

Antibodies; Enzymes; Phosphatase

References

Nandurkar, H.H., et al., Proc. Natl. Acad. Sci. U.S.A. 100(15):8660-8665 (2003). Biancalana, V., et al., Hum. Genet. 112(2):135-142 (2003). Wishart, M.J., et al., Trends Cell Biol. 12(12):579-585 (2002). Herman, G.E., et al., Hum. Mutat. 19(2):114-121 (2002). Sutton, I.J., et al., Neurology 57(5):900-902 (2001).

NCBI and Uniprot Product Information

• NCBI GI #: 2851537
• NCBI GeneID: 4534
• UniProt Accession #: Q13496; Q8NEL1; A6NDB1; B7Z491; F2Z330
• Molecular Weight: 603
• 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; phosphatidylinositol-3-phosphate phosphatase; phosphatidylinositol-3,5-bisphosphate 3-phosphatase
• UniProt Protein Name: Myotubularin
• Protein Family: Myotubularin
• UniProt Gene Name: MTM1
• 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; Motility/polarity/chemotaxis; EC 3.1.3.64; Protein phosphatase, dual-specificity

Chromosomal Location of Human Ortholog: Xq28

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

Molecular Function: protein binding; phosphatidylinositol-3-phosphatase activity; 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; phosphoinositide dephosphorylation; endosome to lysosome transport; protein amino acid dephosphorylation; mitochondrion distribution

Disease: Myopathy, Centronuclear, X-linked