NRXN1
MIM.600565 2q32
Neurexins are polymorphic cell surface proteins that are expressed in neurons.
Neurexins display a remarkable evolutionarily conserved pattern of extensive alternative splicing. As a result, the total number of neurexins in brain probably exceeds 2,000.
Neurexins contain epidermal growth factor-like sequences and domains homologous to the G domain repeats of laminin A (LAMA) (MIM.150320), indicating a function in cell-cell interactions.
Pathology
Disruption of neurexin-1 (NRXN1) associated with autism spectrum disorder (#18179900#)
- Autism is a neurodevelopmental disorder of complex etiology in which genetic factors play a major role.
References
Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris DJ, Noens I, Pauls DL, Daly MJ, MacDonald ME, Morton CC, Quade BJ, Gusella JF. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet. 2008 Jan;82(1):199-207. PMID: #18179900#