DEPDC5

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Description

The DEPDC5 gene, located on chromosome 12, encodes a protein that plays a crucial role in regulating neuronal function. It acts as a tumor suppressor gene, inhibiting cell growth and promoting apoptosis. DEPDC5 protein interacts with other proteins, forming complexes that control various cellular processes, including cell cycle regulation, DNA damage repair, and autophagy. Mutations in the DEPDC5 gene are associated with a range of neurological disorders, highlighting its importance in maintaining neuronal health.

Associated Diseases

• Tuberous sclerosis complex (TSC)
• Infantile spasms
• Focal epilepsy
• Progressive myoclonic epilepsy
• Neurodevelopmental disorders

Did you know?

DEPDC5 gene mutations are also found in some cancers, suggesting its potential role in tumor suppression.