Neurexins are
presynaptic membrane cell-adhesion molecules that bind primarily to
neuroligins, proteins that have been associated with
autism. Autism is characterized by a wide range of social and cognitive deficits, which are partially attributed to faulty synaptic communication between
neurons. This lack of communication is oftentimes tied to mutations in NRXN1. Structural variants of NRXN1a (neurexin1 alpha) are consistent with mutations predisposing autism. These alpha neurexins are involved in communication through coupling mechanisms of
calcium channels and vesicle exocytosis, to ensure that neurotransmitters are properly released. They are specifically required for glutamate and GABA release. Implications of neurexin involvement in autism have been determined through deletion in coding exons of NRXN1a, particularly in knockout mice models. These mice showed impaired social functioning, decreased motor response in new situations, and increased aggressive behavior in males.
Social functioning was of major relevance for this gene and its association with
autism spectrum disorder. ==Genomics==