Neurexin Research

The NRXN1 gene codes for the neurexin 1 protein, which is located at synapses in the brain. Synapses are the connection points between neurons, and neurexin 1 is important for these connections to form and function normally. NRXN1, located on chromosome 2, is one of three similar genes (including NRXN2 and NRXN3) in the human genome that all code similar neurexin proteins that function at synapses.

Deletions of the region of chromosome 2 where NRXN1 is located, termed 2p16.3 deletions, are associated with autism and a number of other neuropsychiatric disorders and conditions, but they can also be found in unaffected individuals. While it is known that neurexin 1 is important for synapse function, how neurexin 1 mutations contribute to autism or other disorders and conditions is not well understood. One of the major goals of the University of Pennsylvania ASPE Program is to clarify the ways that different variants of the NRXN1 gene affect the brain and autism. To reach that goal, the ASPE Program is recruiting all individuals with a NRXN1 variant or 2p16.3 copy number variant (e.g. deletion). This includes those with and without an Autism Spectrum Disorder (ASD) diagnosis and individuals both with and without intellectual disability.

Additionally, the University of Pennsylvania ASPE Program is recruiting individuals with ASD without intellectual disability. For more information on our ASD research, see our ASD Research Page.