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.

WB 1:500 - 1:2000
IHC 1:50 - 1:200
IF 1:50 - 1:100

Recombinant fusion protein containing a sequence corresponding to amino acids 1-382 of human MBNL1 (NP_066368.2).

Unmodified

-20°C