RBM20 (aa717-727) Blocking Peptide | RBM20 blocking peptide
RBM20 (aa717-727) Immunizing Peptide
Expected: Human, Rat, Cow
Expected: Human, Rat, Cow
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein that likely binds RNA. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Mar 2010]
Uniprot Description
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). Ref.1
Subcellular location: Nucleus
By similarity.
Tissue specificity: Expressed in the heart. Ref.3
Involvement in disease: Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.3 Ref.4 Ref.5
Sequence similarities: Contains 1 RRM (RNA recognition motif) domain.
Sequence caution: The sequence CAI16577.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI40091.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI40093.1 differs from that shown. Reason: Erroneous gene model prediction.