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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 DYSF gene was identified in a UDN participant with progressive muscle weakness and wasting (read full description).
Oct 18, 2022
F-box protein 8
F-box proteins, such as FBXO8, are components of modular E3 ubiquitin protein ligases called SCFs (SKP1, cullin, F-box proteins), which function in phosphorylation-dependent ubiquitination (Winston et al., 1999).
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!