Gene: MBNL2
Alternate names for this Gene: MBLL|MBLL39|PRO2032
Gene Summary: This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes 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. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined.
Gene is located in Chromosome: 13
Location in Chromosome : 13q32.1
Description of this Gene: muscleblind like splicing regulator 2
Type of Gene: protein-coding
Gene: LOC101927385
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