MTM1 gene mutations cause X-linked myotubular myopathy. The corresponding protein, myotubularin, contains the consensus active site of tyrosine phosphatases (PTP) and is a tyrosine/serine phosphatase. The 3.7-kb MTMR1 mRNA is expressed ubiquitously. An additional 3.1-kb transcript was detected only in placenta. Analysis of the genomic region containing MTM1 and MTMR1 reveals that the 2 genes share a similar structure, suggesting that they are related and arose from an intrachromosomal gene duplication. The 2 main MTMR1 protein muscular isoforms, like myotubularin, dephosphorylate PI(3)P in vitro. There is a striking reduction in the level of the muscle-specific isoform and the appearance of an abnormal MTMR1 transcript in cultured differentiated muscle cells and in skeletal muscle from congenital myotonic dystrophy patients. MTMR1 may play a role in muscle formation, and may represent another target for abnormal mRNA splicing in myotonic dystrophy.
Immunogen
MTMR1 (Q9Z2C4, 6-42) This antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide selected from the N-terminal region of human MTMR1.
Physical form
Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide.
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