MBNL1 (NM_207295) Human Mass Spec Standard

CAT#: PH319704

MBNL1 MS Standard C13 and N15-labeled recombinant protein (NP_997178)

  View other "MBNL1" proteins (23)

USD 3,255.00

3 Weeks*

    • 10 ug

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Product Data
Tag C-Myc/DDK
Species Human
Expression Host HEK293
Expression cDNA Clone or AA Sequence RC219704
Predicted MW 34 kDa
Protein Sequence
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration >0.05 µg/µL as determined by microplate BCA method
Labeling Method Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer 25 mM Tris-HCl, 100 mM glycine, pH 7.3
Storage Store at -80°C. Avoid repeated freeze-thaw cycles.
Stability Stable for 3 months from receipt of products under proper storage and handling conditions.
Reference Data
RefSeq NP_997178
RefSeq Size 5168
RefSeq ORF 942
Synonyms EXP; MBNL
Locus ID 4154
UniProt ID Q9NR56, Q86VM6
Cytogenetics 3q25.1-q25.2
Summary 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]


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