{"symbol":"MBNL1","synonyms":["EXP","EXP35","MBNL","EXP42","EXP40"],"name":"muscleblind-like splicing regulator 1","description":"This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]","ncbiEntrezGeneId":4154,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4154","proteins":[{"symbol":"MBNL1_HUMAN","href":"/api/1.0/protein/MBNL1_HUMAN"}],"hgncRootFamilies":[{"name":"Zinc fingers","href":"/api/1.0/gene_family/Zinc+fingers"}]}