CLN2 gene

The CLN2 gene provides instructions for producing an enzyme called tripeptidyl peptidase 1 (TPP1), which is crucial for breaking down certain proteins in the brain and other tissues. Mutations in the CLN2 gene can lead to Batten disease, a rare, inherited neurodegenerative disorder that primarily affects children. This condition causes progressive loss of vision, seizures, and cognitive decline. Understanding the CLN2 gene is essential for diagnosing Batten disease and exploring potential treatments, as it highlights the importance of proper protein metabolism in maintaining brain health.