MBNL1 (NM_207296) Human Recombinant Protein

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]

MBNL1 Activity Verified in an mRNA Splicing Assay: MBNL1 (PH34037M5) activity was measured in an mRNA splicing assay. RNA containing insulin receptor (IR) alternative exon 11 flanked by heterologous exons was prepared from template DNA by in vitro transcription. The RNA was incubated with 0.1 or 0.2 micrograms of MBNL1 under splicing conditions for 0 or 2 hours. As a negative control, reactions were carried out in the absence of ATP. RNA was purified from the splicing reactions and used as a template for reverse transcriptase PCR (RT-PCR) using primers in the flanking exons. PCR products were run on a 5% acrylamide gel and stained with ethidium bromide. Band intensity was measured by densitometry and the identity of the indicated products was verified by sequencing. (Data courtesy of Tom Cooper’s laboratory at the Baylor College of Medicine) .

Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.