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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 JAG1 gene was identified in a female, age 36 with rapid, unexplained bilateral vocal cord spasms and muscle weakness (read full description).
Aug 19, 2021
jagged canonical Notch ligand 1
The JAG1 gene encodes for a protein that is involved in the activation of Notch signaling and the differentiation of cardiomyocytes (Li et al., 2006).
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!