WDR65
Description
The WDR65 gene, located on chromosome 11, plays a crucial role in various cellular processes, including protein degradation, DNA repair, and cell cycle regulation. It encodes a protein known as WD repeat domain 65, which forms part of a larger protein complex called the COP9 signalosome (CSN). The CSN complex is involved in the ubiquitin-proteasome system, a cellular machinery that degrades damaged or unnecessary proteins. Mutations in the WDR65 gene can disrupt the function of the CSN complex, leading to a variety of health issues.
Associated Diseases
- Neurodevelopmental disorders, including intellectual disability and autism spectrum disorder
- Cancer, particularly hematologic malignancies such as leukemia and lymphoma
- Immune system disorders, such as autoimmune diseases
Did you know?
The WDR65 gene is highly conserved across different species, indicating its importance for basic cellular functions.
