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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 this gene was identified in a male, age 4, with a history of infantile spasms and an undiagnosed metabolic disorder (elevated alanine and lactate) (read full description).
Sep 11, 2017
transformer 2 beta homolog
The TRA2B gene codes for proteins involved in splicing (Tacke et al., 1998)
A change in the TRA2B 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!