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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 female, age 3 with global developmental delay, failure to thrive, absent speech, and low muscle tone (hypotonia) (read full description).
Jun 24, 2019
component of oligomeric Golgi complex 5
The COG5 gene encodes a protein that is part of the conserved oligomeric Golgi (COG) complex. This complex plays an important role in Golgi structure and function and is involved in intracellular membrane trafficking (Ungar et al., 2002).
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.
Interested in learning more about this gene or sharing what you know? Contact us!