UBE3A
UBE3A is a gene located on chromosome 15 that plays a crucial role in the regulation of protein degradation within cells. It encodes an enzyme called ubiquitin-protein ligase, which tags proteins for destruction, helping to maintain cellular balance and function. Mutations or deletions in the UBE3A gene can lead to various disorders, including Angelman syndrome, a neurodevelopmental condition characterized by developmental delays and speech impairments.
In normal circumstances, UBE3A is expressed in many tissues, but it is particularly active in the brain. The gene is subject to a unique form of genomic imprinting, meaning that only the copy inherited from the mother is active in neurons. This imprinting mechanism is essential for proper brain function, and disruptions can result in significant neurological challenges.