Aliases for MBNL3 Gene
External Ids for MBNL3 Gene
Previous GeneCards Identifiers for MBNL3 Gene
This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
GeneCards Summary for MBNL3 Gene
MBNL3 (Muscleblind Like Splicing Regulator 3) is a Protein Coding gene. Diseases associated with MBNL3 include Myotonic Dystrophy and Myoclonic Cerebellar Dyssynergia. An important paralog of this gene is MBNL1.
UniProtKB/Swiss-Prot Summary for MBNL3 Gene
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.