Literature associating CNTNAP2 and Williams-Beuren syndrome
CNTNAP2 [ENSP00000354778]
Contactin associated protein-like 2; 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; Belongs to the neurexin family.
Synonyms: CNTNAP2, CNTNAP2p, hCNTNAP2, B7Z1Y6, H0Y4J0 ...