Jul 22, 2019
enhancer of zeste 1, polycomb repressive complex 2 subunit
The EZH1 gene codes for a protein important in the maintenance of embryonic stem cell pluripotency. This protein plays a role in transcriptional silencing (Shen, et al., 2008).
A de novo change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!