If any of these participants sound like you or someone you know, please contact us!Contact Us
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 8 with TRIP12 associated autism and facial dysmorphology (read full description).
Feb 15, 2018
thyroid hormone receptor interactor 12
The TRIP12 gene encodes a protein called an E3 ubiquitin protein ligase that is involved in labeling specific cellular proteins for degradation (Bramswig et al., 2017).
A change in the TRIP12 gene was identified in a UDN participant. The participant was found to carry the following genetic change:
Interested in learning more about this gene or sharing what you know? Contact us!