Tissue expression
Cell line expression
Protein structure
MBNL1
Muscleblind like splicing regulator 1EXP, EXP35, EXP40, EXP42, KIAA0428, MBNL
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]
Top validated antibodies |
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Novus Biologicals | ![]() |
2 references | Monoclonal |
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Boster Biological Technology | ![]() |
1 references | Polyclonal |
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Abnova Corporation | ![]() |
1 references | Monoclonal |
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Proteintech Group | ![]() |
4 references | Monoclonal |
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LSBio | ![]() |
Monoclonal |
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