TUBA3E encodes tubulin alpha 3e, a major structural component of microtubules that form the cytoskeletal backbone essential for cellular organization and division [UniProt]. As an alpha-tubulin, TUBA3E heterodimerizes with beta-tubulin and polymerizes into microtubule protofilaments through GTP-dependent mechanisms, with GTPase activity of the alpha-tubulin regulating microtubule dynamics [UniProt]. TUBA3E was identified as a novel disease gene associated with neurological disorders through whole-exome sequencing of consanguineous families with recessive inheritance patterns 1. Beyond neurogenetic disease, TUBA3E has emerged as a clinically relevant biomarker in oncology: it was incorporated into a 9-gene prognostic risk model for breast cancer predicting neoadjuvant chemotherapy response and overall survival 2, and identified as part of a 5-gene aggrephagy-related signature associated with breast cancer prognosis and immune microenvironment characteristics 3. Additionally, TUBA3E expression is dysregulated in gestational exposure models of breast cancer risk and correlates with poor survival outcomes in human breast cancer cohorts 4. TUBA3E was also identified as a key therapeutic target in dilated cardiomyopathy-induced heart failure through co-expression network analysis 5.
No tissue expression data available for this gene.