Gene: MBNL1

Alternate names for this Gene: EXP|MBNL

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q25.1-q25.2

Description of this Gene: muscleblind like splicing regulator 1

Type of Gene: protein-coding

Gene: MBNL1-AS1

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