RBM20


Description

The RBM20 (RNA binding motif protein 20) is a protein-coding gene located on chromosome 10.

RBM20 is a regulator of mRNA splicing, specifically acting as a repressor. It binds to a 5'UCUU-3' motif within intronic sequences of pre-mRNAs, leading to the exclusion of specific exons in target transcripts. This process is hormone-dependent and essential for the transition of TTN isoforms in cardiac and skeletal muscles. RBM20-mediated exon skipping of TTN also produces substrates for the formation of circular RNA (circRNAs). In collaboration with RBM24, RBM20 promotes the expression of short isoforms of PDLIM5/ENH in cardiomyocytes. RBM20 associates with components of the U1 and U2 small nuclear ribonucleoprotein complexes.

RBM20 is also known as -.

Associated Diseases


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