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Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction.
Gene Name: | muscleblind-like splicing regulator 3 |
Synonyms: | MBNL3, CHCR, Cys3His CCG1-required protein, MBLX, MBXL, Muscleblind-like protein 3, Muscleblind-like 3, MBLX39, Protein HCHCR |
Target Sequences: | NM_018388 NP_060858.2 Q9NUK0 |
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