General 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]
Immunogen
A synthesized peptide derived from human MBNL1
Physical form
Buffer: PBS with 0.02% sodium azide,0.05% BSA,50% glycerol,pH7.3.
- UPC:
- 51202414
- Condition:
- New
- Availability:
- 3-5 Dyas
- Weight:
- 1.00 Ounces
- HazmatClass:
- No
- WeightUOM:
- LB
- MPN:
- SAB5701595-100UL
- Product Size:
- 1/EA