Species Human Entrez 2130 | Human Mouse Ensembl ENSG00000182944 | |
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Aliases EWSR1, EWS, bK984G1.4, EWS-FLI1, Ewing sarcoma breakpoint region 1, EWS RNA binding protein 1 External IDs HomoloGene: 136069 GeneCards: EWSR1 | ||
RNA-binding protein EWS is a protein that in humans is encoded by the EWSR1 gene on human chromosome 22.
Contents
This gene encodes a putative RNA binding protein. Alternative splicing of this gene results in two products.
Clinical relevance
Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma and other members of the Ewing family of tumors. Other mutations have also been associated to amyotrophic lateral sclerosis.
Interactions
Ewing sarcoma breakpoint region 1 has been shown to interact with:
References
Ewing sarcoma breakpoint region 1 Wikipedia(Text) CC BY-SA