Analysis of EWSR1 Gene Rearrangement by Southern Blot Technology (CAT#: STEM-MHT-0001-LGZ)

Introduction

Official Full Name: EWS RNA binding protein 1
Also known as: EWS; EWS-FLI1; bK984G1.4
This gene encodes a multifunctional protein involved in a variety of cellular processes, including gene expression, cell signaling, RNA processing and trafficking. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors lead to the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins typically consist of the protein's N-terminal transcriptional activation domain fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14.