ELAVL3 is a neuron-enriched RNA-binding protein that binds AU-rich element sequences in target mRNAs to regulate gene expression 1. It plays critical roles in neuronal development, differentiation, and function through interaction with microRNAs like miR-124 to promote expression of genes associated with neuronal maturation 2. ELAVL3 also regulates 3'UTR length and modulates dsRNA levels in neurons, contributing to innate immune homeostasis and antiviral defense through pattern recognition receptor signaling 3. Clinically, ELAVL3 dysfunction is implicated in multiple neurodevelopmental and neurodegenerative disorders. Nuclear depletion of ELAVL3 occurs early in amyotrophic lateral sclerosis pathogenesis, preceding or accompanying TDP-43 abnormalities and suggesting loss-of-function involvement 4. ELAVL3 has been identified as a novel candidate gene in microcephaly and neurodevelopmental disorders 5, and deletions spanning ELAVL3 associate with autism spectrum disorder alongside lipidome abnormalities 6. Additionally, ELAVL3 upregulation drives neuroendocrine differentiation in prostate cancer, with the ELAVL3/MYCN feedback loop being suppressible by the FDA-approved drug pyrvinium pamoate, offering potential therapeutic applications 7. ELAVL3 is essential for cerebellar function and has been associated with epilepsy 1.
No related genes found for this gene.
No tissue expression data available for this gene.