|Other Names||Muscleblind-like protein 3, Cys3His CCG1-required protein, Muscleblind-like X-linked protein, Protein HCHCR, MBNL3, CHCR, MBLX39, MBXL|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Synonyms||CHCR, MBLX39, MBXL|
|Function||Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction.|
|Cellular Location||Nucleus. Cytoplasm. Note=Greater concentration in the nucleus. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts|
|Tissue Location||Highly expressed in the placenta.|
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This gene encodes a member of the muscleblind-like familyof proteins. The encoded protein may function in regulation ofalternative splicing and may play a role in the pathophysiology ofmyotonic dystrophy. Alternatively spliced transcript variants havebeen described.
Holt, I., et al. Am. J. Pathol. 174(1):216-227(2009)Self, J.E., et al. Mol. Vis. 12, 1211-1216 (2006) :Ho, T.H., et al. EMBO J. 23(15):3103-3112(2004)Squillace, R.M., et al. Dev. Biol. 250(1):218-230(2002)Fardaei, M., et al. Hum. Mol. Genet. 11(7):805-814(2002)
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