MBNL1 is a member of the muscleblind-like (MBNL) family that mediates pre-mRNA alternative splicing regulation (1). MBNL1 acts either as activator or repressor of splicing on specific pre-mRNA targets. It inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. In addition, it antagonizes the alternative splicing activity pattern of CELF proteins, regulates the TNNT2 exon 5 skipping through competition with U2AF2 and inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. It may also play a role in myotonic dystrophy pathophysiology (DM) (2).
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