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. [provided by RefSeq, Mar 2012]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MBNL2-20-RE | 20 (40 μL) | 200 μL |  |
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| MBNL2-20-OR | 20 (40 μL) | 200 μL |  |
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| MBNL2-20-GO | 20 (40 μL) | 200 μL |  |
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| MBNL2-20-GR | 20 (40 μL) | 200 μL |  |
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| MBNL2-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Mar 2012]
Gene Symbol : MBNL2
Gene Name : Muscleblind like splicing regulator 2
Chromosome : CHR 13: 971,417,79-973,941,19
Locus : 13q32.1
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