Recombinant Human MBNL1 protein, MYC/DDK-tagged

• Cat.No.: MBNL1-524H
• Product Overview: Recombinant Human MBNL1, transcript variant 6, fused with MYC/DDK tag at C-terminal was expressed in HEK293.

Specification

• Species: Human
• Source: HEK293
• Tag: DDK&Myc
• 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.
• Form: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.
• Molecular Mass: 36.8 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Concentration: >50 ug/mL as determined by microplate BCA method

Gene Information

• Gene Name: MBNL1 muscleblind-like splicing regulator 1 [ Homo sapiens ]
• Official Symbol: MBNL1
• Synonyms: MBNL1; muscleblind-like splicing regulator 1; MBNL, muscleblind (Drosophila) like , muscleblind like (Drosophila); muscleblind-like protein 1; EXP; EXP35; EXP40; EXP42; KIAA0428; triplet-expansion RNA-binding protein; MBNL; DKFZp686P06174
• Gene ID: 4154
• mRNA Refseq: NM_207296
• Protein Refseq: NP_997179
• MIM: 606516
• UniProt ID: Q9NR56
• Chromosome Location: 3q25
• Pathway: Adipogenesis, organism-specific biosystem
• Function: RNA binding; double-stranded RNA binding; metal ion binding; nucleic acid binding; protein binding; zinc ion binding