The image is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA567465(MBNL3 Antibody) at dilution 1/20. (Original magnification: ×200)
The image is immunohistochemistry of paraffin-embedded Human brain tissue using CSB-PA567465(MBNL3 Antibody) at dilution 1/20. (Original magnification: ×200)
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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
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.
基因功能參考文獻(xiàn):
The MBNL3 splicing factor promotes hepatocellular carcinoma by increasing pacillin expression through the alternative splicing of lncRNA-PXN-AS1. PMID: 28553938
results suggest that CHCR is an inhibitor of myogenesis PMID: 12297108
MBNL proteins promote opposite splicing patterns for cardiac troponin T and insulin receptor alternative exons PMID: 15257297
We exclude MBNL3 as the causative gene in this family. PMID: 17102799
Nucleus. Cytoplasm. Note=Greater concentration in the nucleus. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts.