background:
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]
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).
Subcellular Location:
Nucleus (By similarity).
Tissue Specificity:
Expressed in the heart.
DISEASE:
Defects in RBM20 are the cause of cardiomyopathy dilated type 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.
Similarity:
Contains 1 RRM (RNA recognition motif) domain.
Database links:
Entrez Gene: 282996 Human
Entrez Gene: 73713 Mouse
Entrez Gene: 309544 Rat
Omim: 613171 Human
SwissProt: Q5T481 Human
SwissProt: Q3UQS8 Mouse
Unigene: 92105 Cow
Unigene: 116630 Human
Unigene: 726550 Human
Unigene: 485879 Mouse
Unigene: 21596 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Involvement in disease;Defects in RBM20 are the cause of cardiomyopathy dilated type 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.
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