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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.
Changes in the TAX1BP3 gene were identified in a male, age 15 with arrhythmogenic right ventricular cardiomyopathy (read full description).
Dec 06, 2018
Tax1 binding protein 3
TAX1BP3 is a PDZ domain-containing protein that influences plasma membrane protein content and membrane dynamics (Wang et al., 2014).
Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.
*Note: the participant was found to have bi-allelic variants in the TAX1BP3 gene.
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