TAX1BP3

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).

Date of Report

Dec 06, 2018

Full Name

Tax1 binding protein 3

Location
Chromosome 17 (17p13.2)


Function

TAX1BP3 is a PDZ domain-containing protein that influences plasma membrane protein content and membrane dynamics (Wang et al., 2014).

Database Links

GeneCards: GC17M00366

NCBI Gene: 30851

OMIM: 616484

UniProtKB/Swiss-Prot: O14907

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene TAX1BP3
Inheritance Pattern Autosomal Recessive
Position
Transcript
DNA Change
Protein Change

*Note: the participant was found to have bi-allelic variants in the TAX1BP3 gene.

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