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RBM20 encodes a protein that likely binds RNA. Additionally we are shipping RBM20 Antibodies (32) and RBM20 Kits (4) and many more products for this protein.
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RBM20 familial dilated cardiomyopathy is a developmental disorder initiated by molecular defects that pattern maladaptive cellular mechanisms of pathological cardiac remodeling.
In failing hearts, reduced expression of RBM20 affected alternative splicing of several direct targets, indicating that differences in RBM20 expression may affect cardiac function.
Study demonstrates that Rbm20 is expressed in early cardiogenesis and functions in the patterning of cardiac gene expression.
The RBM20 c.1907 G>A (p.Arg636His) was confirmed in all 3 affected subjects who underwent exome sequencing.
Nuclear retention domains have been identified in RBM20 which is a nuclear protein regulating alternative splicing of expressed genes.
Mutations in RBM20 identified in approximately 3% of individuals with dilated cardiomyopathy. Mutations in RBM20 did not adversely affect survival or ventricular arrhythmias in subjects with dilated cardiomyopathy.
Deep sequencing of the human and rat cardiac transcriptome revealed an RBM20-dependent regulation of alternative splicing
Dilated cardiomyopathy in patients with RBM20 mutations is associated with advanced disease.
RBM20 as a dilated cardiomyopathy gene and reveal a mutation hotspot in the RS domain. Individuals in each family revealed distinct heterozygous missense mutations in exon 9 of RBM20, encoding ribonucleic acid (RNA) binding motif protein 20.
RBM20 missense mutation is a novel gene underlying one form of dilated cardiomyopathy
This gene encodes a protein that likely binds RNA. Mutations in this gene have been associated with familial dilated cardiomyopathy.
RNA binding motif protein 20
, RNA-binding motif protein 20
, RNA-binding protein 20
, probable RNA-binding protein 20