RBM20

Function

RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes involved in cardiac development. Regulates splicing of TTN (Titin).

Involvement in disease

Cardiomyopathy, dilated 1DD

CMD1DD

A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

None

The disease is caused by variants affecting the gene represented in this entry.

Tissue specificity

Expressed in the heart.

Cellular localization

• Nucleus

Alternative names

• RNA-binding protein 20
• RNA-binding motif protein 20
• RBM20

Database links

• entrezGene:282996
• omim:613171
• swissprot:Q5T481

Target type

Proteins

Molecular weight

134357Da