TAX1BP3 Chromosome 17
Tax1 binding protein 3
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What This Gene Does
This gene encodes a small, highly conserved protein with a single PDZ domain. PDZ (PSD-95/Discs large/ZO-1 homologous) domains promote protein-protein interactions that affect cell signaling, adhesion, protein scaffolding, and receptor and ion transporter functions. The encoded protein interacts with a large number of target proteins that play roles in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator of the Wnt/beta-catenin signaling pathway. This protein was first identified as binding to the T-cell leukaemia virus (HTLV1) Tax oncoprotein. Overexpression of this gene has been implicated in altered cancer cell adhesion, migration and metastasis. The encoded protein also modulates the localization and density of inwardly rectifying potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
PDZ domain containing
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000213977
Associated Conditions (2)
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy
Primary familial dilated cardiomyopathy
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1307997067 | Health Risk | Conflicting classifications of pathogenicity | TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy, Primary familial dilated cardiomyopathy, TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy |