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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 2 with seizures, absent speech, failure to thrive, and small head size (acquired microcephaly) (read full description).
Oct 17, 2019
RNA polymerase II associated protein 3
The RPAP3 gene codes for a protein that is physically and functionally associated with the RNA polymerase II complex. It plays an important role in RNA transcription (Jeronimo et al., 2007).
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!