Muscleblind-like protein 3 (MBNL3)

Muscleblind-like protein 3 (MBNL3) is an RNA-binding protein belonging to the MBNL family, which also includes MBNL1 and MBNL2. It contains two pairs of zinc finger domains that mediate direct binding to RNA, crucial for regulating alternative splicing and polyadenylation of pre-mRNAs. While MBNL1 and MBNL2 are broadly expressed and play key roles in muscle, heart, and neural tissues, MBNL3 is predominantly expressed in placental and embryonic tissues, where it orchestrates tissue-specific splicing during development. MBNL3 and other family members participate in the fine-tuning of gene expression by regulating mRNA localization, stability, maturation, and degradation. Aberrant function of the MBNL family, through loss or sequestration, is strongly implicated in the pathogenesis of myotonic dystrophy, a multisystem disorder characterized by widespread defects in alternative splicing. MBNL3’s unique tissue expression profile underpins its specialized roles in embryogenesis and placental biology, in contrast to the more ubiquitous impact of MBNL1/2.

Other names

CHCRMBXLMBLXMBLX39FLJ11316Cys3His CCG1-required proteinmuscleblind-like X-linked proteinProtein HCHCR

Not applicable; no drugs target MBNL3 directly