AGBL1
Description
The AGBL1 gene provides instructions for making a protein known as an E3 ubiquitin ligase. This enzyme plays a vital role in the ubiquitin-proteasome system (UPS), a cellular machinery responsible for degrading damaged or unnecessary proteins. By tagging proteins with ubiquitin molecules, AGBL1 marks them for destruction by proteasomes, ensuring proper cellular function and preventing the accumulation of harmful proteins. The importance of AGBL1 is highlighted by its involvement in various cellular processes, including cell growth, differentiation, and response to stress. Mutations in the AGBL1 gene can lead to a range of disorders, affecting diverse systems within the body.
Associated Diseases
- Angelman Syndrome
- Prader-Willi Syndrome
- Autism Spectrum Disorder
- Intellectual Disability
- Epilepsy
- Neurodevelopmental Disorders
- Cancer
Did you know?
AGBL1‘s role in protein degradation is particularly crucial in neurons, where its malfunction can contribute to the development of neurodegenerative disorders.
