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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 MRTFB gene was identified in a UDN participant with autism, cognitive impairment, facial feature differences, and low muscle tone (read full description).
Jan 03, 2023
Myocardin Related Transcription Factor B
This gene enables transcription co-activator activity. Additionally, this gene is involved in the positive regulation of transcription of RNA polymerase II, striated muscle tissue development, and miRNA transcription (Song et al., 2016).
A change in this gene was identified in a UDN participant.
Interested in learning more about this gene or sharing what you know? Contact us!