基因名：
MBNL1
产品别名：
EXP； MBNL； MBNL1； muscleblind like splicing regulator 1； muscleblind like splicing regulator 1； muscleblind-like protein 1； muscleblind-like； triplet-expansion RNA-binding protein； MBNL1蛋白；
背景信息：
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.
