Muscleblind-like protein 2 (MBNL2)

Muscleblind-like protein 2 (MBNL2) is an RNA-binding, zinc finger protein and alternative splicing regulator belonging to the muscleblind-like (MBNL) family, which includes three members (MBNL1, MBNL2, and MBNL3). MBNL2 is widely expressed, especially in the central nervous system, heart, and skeletal muscle, where it controls tissue-specific alternative splicing and other post-transcriptional RNA processing events. Like other MBNL proteins, MBNL2 governs mRNA maturation, stability, subcellular localization, and alternative polyadenylation, thus orchestrating normal development and gene expression patterns. Loss of MBNL2 function or misregulation is a key pathogenic step in myotonic dystrophy: expanded CUG/CCUG RNA repeats sequester MBNL proteins, leading to widely misregulated alternative splicing and multiple DM-associated symptoms in muscle and heart. MBNL2 functions redundantly with MBNL1 in some tissues, and its expression can partly compensate for loss of MBNL1. It interacts with other RNA-binding proteins and splicing factors (CELF, RBFOX, PTBP), modulating both normal and disease-specific RNA metabolism. Therapeutic interest in MBNL2 centers on restoring proper splicing in DM1 and related neuromuscular diseases, but currently there are no approved drugs directly targeting MBNL2.

Other names

MBNL2MBLLMBLL39MLP1PRO2032muscleblind-like protein 2muscleblind-like 2