UBE3A
Description
The UBE3A gene provides instructions for making a protein called ubiquitin protein ligase E3A. This protein is crucial for the development and function of the brain, particularly in areas responsible for learning, memory, and behavior. It works by tagging other proteins for degradation, thus regulating their levels within the cell. This intricate process plays a vital role in synaptic plasticity, a process essential for learning and memory. Disruptions in UBE3A gene function can lead to various neurological disorders, highlighting its significance in maintaining a healthy nervous system.
Associated Diseases
Did you know?
UBE3A is an imprinted gene, meaning only the copy inherited from the mother is active in most brain cells.
