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On this page, you will find information about genetic changes that were identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
Changes in this gene were identified in a male, age 15 with plastic bronchitis, recurrent pneumonia and ear infections (otitis media) (read full description).
Oct 25, 2019
ETS proto-oncogene 1, transcription factor
The ETS1 gene codes for a protein in the highly conserved ETS family. This protein is a transcription factor that plays a role in cell proliferation, differentiation, angiogenesis, and lymphoid cell development. Proteins in the ETS family have also been found to play an important role in the function of the mammalian immune system (Li et al., 2000).
Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!