WDR65

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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.