Literature associating EWSR1 and congenital myasthenic syndrome 5
Ewing sarcoma breakpoint region 1 protein; Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes; Belongs to the RRM TET family.
Synonyms: EWSR1, EWSR1p, hEWSR1, B0QYJ3, B0QYJ4 ...