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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 TMEM204 gene was identified in a UDN participant with seizures, developmental regression, and abnormal muscle tone.
Nov 13, 2023
Transmembrane protein 204
The TMEM204 gene (previously referred to as CLP24) codes for a protein involved in cell adhesion (Kearsey et al., 2004). Kearsey et al. (2004) showed that over expression of this protein causes decreased cell to cell adhesion. This study also showed that this protein was highly expressed in the lung, heart, kidney, and placental tissue (Kearsey et al., 2004).
A homozygous change in this gene was identified in a UDN participant.
Interested in learning more about this gene or sharing what you know? Contact us!