MBNL1 polyclonal antibody

Pre-mRNA splicing is a critical step in the posttranscriptional regulation of gene expression. Several protein complexes are involved in proper mRNA splicing and transport. The muscleblind proteins, MBNL1, MBNL2 and MBNL3, promote inclusion or exclusion of specific exons on different pre-mRNAs by antagonizing the activity of CUG-BP and ETR-3-like factors bound to distinct intronic sites. MBNL1 is a deduced 370 amino acid protein which is predominantly expressed in skeletal muscle, prostate, lung, heart, small intestine, ovary and placenta tissues. MBNL1 and MBNL2, which associate with ex-panded CUG repeats in vitro, both localize to the nuclear foci in both DM1 and DM2 (myotonic dystrophy types 1 and 2), suggesting that the nuclear accumulation of mutant RNA is pathogenic in DM1, therefore implicating MBNL1 and 2 in the pathogenesis of both disorders.