TPT1

The protein encoded by this gene regulates cellular growth and proliferation, binds calcium, stabilizes microtubules, and acts as a negative regulator of apoptosis. Mutations cause autosomal dominant neurodegeneration with brain atrophy, characterized by progressive developmental regression, intellectual disability, and seizures with onset in infancy or early childhood. The gene is highly constrained against loss-of-function mutations, suggesting that haploinsufficiency may be poorly tolerated.