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On this page, you will find information about a genetic change that was 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.
A change in the MAPK8IP3 gene was identified in a male, age 5 with global developmental delay (read full description).
Jan 08, 2019
mitogen-activated protein kinase 8-interacting protein 3
The MAPK8IP3 gene codes for a protein important in the function of cells in the nervous system (Yang et al. 2001).
The following change was identified in a UDN participant. Several families with children with MAPK8IP3 variants have partnered to create a website for families to connect and learn about ongoing research: https://curemapk8ip3.org.
Interested in learning more about this gene or sharing what you know? Contact us!