RBM20 gene

RNA binding motif protein 20

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]

From UniProt:

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).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Dilated cardiomyopathy 1DD

From UniProt:

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. [MIM:613172]

Cytogenetic Location: 10q25.2, which is the long (q) arm of chromosome 10 at position 25.2

Molecular Location: base pairs 110,641,934 to 110,839,471 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q25.2, which is the long (q) arm of chromosome 10 at position 25.2