Structural highlights
Disease
[CNTP2_HUMAN] Pitt-Hopkins-like syndrome;Autism;Cortical dysplasia - focal epilepsy syndrome. Disease susceptibility is associated with variations affecting the gene represented in this entry. A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv(7)(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2. The disease is caused by mutations affecting the gene represented in this entry.
Function
[CNTP2_HUMAN] Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction.[UniProtKB:Q9CPW0]
