背景
This gene encodes a member of the neurexin family which functions in the vertebrate
nervous system as cell adhesion molecules and receptors .This protein, like other neurexin
proteins, contains epidermal growth factor repeats and laminin G domains . In addition, it
includes an F5/8 type C domain, discoidin/neuropilin - and fibrinogen-like domains,
thrombospondin N-terminal-like domains and a putative PDZ binding site .This protein is
localized at the juxtaparanodes of myelinated axons, and mediates interactions between
neurons and glia during nervous system development and is also involved in localization of
potassium channels within differentiating axons .This gene encompasses almost 1.5% of
chromosome 7 and is one of the largest genes in the human genome . It is directly bound
and regulated by forkhead box protein P2, a transcription factor related to speech and
language development .This gene has been implicated in multiple neurodevelopmental
disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD
and intellectual disability .
