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On this page, you will find information about a genetic change that was identified in a UDN participant.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a male, age 12, with developmental regression, absent speech, seizures, and distinct facial features (read full description).
Mar 03, 2020
MYC binding protein 2
MYCBP2 encodes a protein that is an E3 ligase and is involved in the regulation of the nervous system and axon degeneration (Pao, et al. 2018).
A 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!