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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 4 with global developmental delay, brain abnormalities, seizures, and hearing and vision loss (read full description).
Mar 30, 2020
nuclear receptor subfamily 2, group c, member 2
The NR2C2 gene codes for a protein in the orphan nuclear receptor subclass. It binds as a homodimer to direct repeats of AGGTCA and functions both as a positive and negative regulator of transcription. It is thought that it is also involved in the recruitment of other transcription intermediary factors (Nakajima et al., 2004).
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.
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