Ubiquitin-protein ligase E3A (UBE3A)

Ubiquitin-protein ligase E3A (UBE3A) is an enzyme that plays a central role in the ubiquitin–proteasome system, responsible for tagging proteins with ubiquitin for degradation. It is crucial for neuronal function, synaptic plasticity, and overall cellular homeostasis. Loss-of-function mutations in the maternally inherited UBE3A gene cause Angelman syndrome, while rare gain-of-function variants are associated with autism and intellectual disability. UBE3A also acts as a transcriptional coactivator. It regulates viral pathogenesis by targeting key viral proteins for degradation.

Other names

E6AP ubiquitin-protein ligaseE6-associated proteinE6-AP

Catalyzes the formation of K48-linked polyubiquitin chains on substrate proteins, targeting them for proteasomal degradation. Functions as a transcriptional coactivator for steroid hormone receptors.