UBE4A
Description
UBE4A, also known as E1B-associated protein 1 (E1BP1), is a ubiquitin E4 ligase, a critical component of the ubiquitin-proteasome system (UPS). The UPS is a cellular machinery responsible for tagging and degrading damaged, misfolded, or unnecessary proteins. UBE4A specifically acts as a ‘molecular chaperone‘, assisting in the polyubiquitination of proteins targeted for degradation. This process involves the attachment of multiple ubiquitin molecules to the target protein, marking it for dismantling by proteasomes, cellular protein-degrading machines. UBE4A plays a vital role in various cellular processes, including cell cycle regulation, DNA repair, and signal transduction, ensuring proper protein homeostasis and cell function.
Associated Diseases
- Angelman Syndrome (AS): A neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, and a happy demeanor.
- UBE4A-related Epilepsy: A rare form of epilepsy linked to mutations in the UBE4A gene, often presenting with severe epilepsy in early infancy.
- Neurodevelopmental Disorders: UBE4A dysfunction is increasingly implicated in other neurodevelopmental disorders, highlighting its role in brain development and function.
Did you know?
UBE4A has been nicknamed the ‘Angelman Syndrome gene‘ due to its strong association with this disorder. Mutations in UBE4A are responsible for approximately 70% of AS cases.
