MTMR1 Antibody (1B9): sc-134395

MTMR1 Antibody (1B9) is a mouse monoclonal IgG2a kappa light chain antibody that detects MTMR1 protein of mouse, rat, and human origin by western blotting (WB), immunoprecipitation (IP), and enzyme-linked immunosorbent assay (ELISA). Anti-MTMR1 antibody (1B9) is available as a non-conjugated format. MTMR1, which shares 59% sequence identity with myotubularin, plays a crucial role in muscle formation and is located on chromosome X, adjacent to the MTM1 gene responsible for myotubular myopathy. This condition is a severe congenital muscular disease characterized by hypotonia and muscle weakness, often leading to early postnatal death. MTMR1 functions as a lipid phosphatase, involved in the regulation of phosphatidylinositol 3-kinase (PI 3-kinase) pathway and membrane trafficking. By dephosphorylating phosphatidylinositol 3-monophosphate, MTMR1 helps modulate cellular signaling pathways essential for muscle cell development and function. Loss of MTMR1 in patients with myotubular myopathy underscores its critical role in muscle integrity and highlights potential therapeutic interventions targeting MTMR1.

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MTMR1 Antibody (1B9) References:

1. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.  |  Buj-Bello, A., et al. 1999. Hum Mutat. 14: 320-5. PMID: 10502779
2. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.  |  Buj-Bello, A., et al. 2002. Hum Mol Genet. 11: 2297-307. PMID: 12217958
3. Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.  |  Zanoteli, E., et al. 2005. Am J Med Genet A. 134: 338-40. PMID: 15690409
4. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.  |  Laporte, J., et al. 1996. Nat Genet. 13: 175-82. PMID: 8640223