NRXN1
Description
The NRXN1 (neurexin 1) is a protein-coding gene located on chromosome 2.
Neurexin-1-alpha is a protein encoded by the NRXN1 gene, which belongs to the neurexin family. Neurexins are crucial for the vertebrate nervous system, acting as cell adhesion molecules and receptors. NRXN1 is one of the largest known human genes and, along with NRXN3, uses alternate promoters and alternative splicing to generate thousands of distinct mRNA transcripts and protein isoforms. The majority of transcripts encode alpha-neurexin isoforms, which contain EGF-like sequences and laminin G domains and interact with neurexophilins. Beta-neurexins, produced in fewer amounts, lack EGF-like sequences and have fewer laminin G domains. Neurexins play a critical role in presynaptic membrane cell-adhesion by binding primarily to neuroligins, proteins associated with autism. Mutations in NRXN1 can disrupt synaptic communication and contribute to the social and cognitive deficits characteristic of autism.
NRXN1 is also known as Hs.22998, PTHSL2, SCZD17.
