Furthermore, ASD-associated pathogenic CNTNAP2 mutations inhibited the α-cleavage, leading to autism-like phenotypes in vivo, whereas exogenous expression of the α-cleavage product C79 improves autism-like phenotypes in the Cntnap2-I1254T knock-in and Cntnap2−/− knockout mice. The gene discussed is CNTNAP2; the disease is autism.