Automated description from the Alliance of Genome Resources (Release 5.4.0)
Enables PDZ domain binding activity. Involved in several processes, including chemical synaptic transmission; nervous system development; and synapse organization. Acts upstream of or within glutamatergic neuron differentiation and neuron projection development. Located in excitatory synapse; juxtaparanode region of axon; and membrane. Part of voltage-gated potassium channel complex. Is active in several cellular components, including axon initial segment; cerebellar granule cell to Purkinje cell synapse; and presynaptic active zone membrane. Is expressed in central nervous system; neural retina; and sciatic nerve. Used to study autism spectrum disorder and cortical dysplasia-focal epilepsy syndrome. Human ortholog(s) of this gene implicated in several diseases, including Pitt-Hopkins syndrome; autism spectrum disorder (multiple); communication disorder (multiple); cortical dysplasia-focal epilepsy syndrome; and social phobia. Orthologous to human CNTNAP2 (contactin associated protein 2).