Description
Product Characteristics: 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.,MBNL1,EXP,MBNL,Epigenetics & Nuclear Signaling,RNA Binding,MBNL1
Target Information: Involved in pre-mRNA alternative splicing regulation. Binds to CUG triplet repeat in RNA (By similarity)