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 Cerebellum Cancer. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is MBNL1.
UniProtKB/Swiss-Prot 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.