AGBL5
Description
The AGBL5 gene, located on chromosome 17, encodes a protein known as AB1-like protein 5. This protein plays a crucial role in the ubiquitin-proteasome system (UPS), a cellular machinery responsible for degrading damaged or unwanted proteins. AGBL5 acts as an E3 ubiquitin ligase, attaching ubiquitin tags to target proteins, marking them for degradation by the proteasome. This process is essential for maintaining cellular homeostasis, regulating signaling pathways, and preventing the accumulation of misfolded proteins that can lead to various diseases.
Associated Diseases
- **Neurodevelopmental disorders:** Mutations in AGBL5 have been linked to intellectual disability, autism spectrum disorder, and epilepsy.
- **Cancer:** Some studies suggest a potential role of AGBL5 in cancer development and progression.
- **Neurodegenerative diseases:** Dysregulation of the UPS, including AGBL5 dysfunction, has been implicated in neurodegenerative disorders like Alzheimer's and Parkinson's diseases.
- **Other disorders:** AGBL5 mutations have been associated with a range of other conditions, including immune deficiencies, developmental abnormalities, and metabolic disorders.
Did you know?
AGBL5 is part of a large family of E3 ubiquitin ligases known as the AB1-like family. This family plays a diverse range of roles in cellular processes, including signal transduction, immune responses, and protein trafficking.
