This gene encodes a member of the neuroligin family of neuronal cell surface proteins. Neuroligins may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with Autism Spectrum Disorders (ASDs). Multiple transcript variants encoding distinct isoforms have been identified for this gene, but their full length sequences have not been determined.[3]
References
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↑Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O (Sep 2000). "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (2): 143–50. doi:10.1093/dnares/7.2.143. PMID10819331.
Cantallops I, Cline HT (2000). "Synapse formation: if it looks like a duck and quacks like a duck ...". Curr. Biol. 10 (17): R620–3. doi:10.1016/S0960-9822(00)00663-1. PMID10996085.
Ichtchenko K, Nguyen T, Südhof TC (1996). "Structures, alternative splicing, and neurexin binding of multiple neuroligins". J. Biol. Chem. 271 (5): 2676–82. doi:10.1074/jbc.271.5.2676. PMID8576240.
Nguyen T, Südhof TC (1997). "Binding properties of neuroligin 1 and neurexin 1beta reveal function as heterophilic cell adhesion molecules". J. Biol. Chem. 272 (41): 26032–9. doi:10.1074/jbc.272.41.26032. PMID9325340.
Gilbert M, Smith J, Roskams AJ, Auld VJ (2001). "Neuroligin 3 is a vertebrate gliotactin expressed in the olfactory ensheathing glia, a growth-promoting class of macroglia". Glia. 34 (3): 151–64. doi:10.1002/glia.1050. PMID11329178.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Vincent JB, Kolozsvari D, Roberts WS, et al. (2005). "Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands". Am. J. Med. Genet. B Neuropsychiatr. Genet. 129 (1): 82–4. doi:10.1002/ajmg.b.30069. PMID15274046.
Gauthier J, Bonnel A, St-Onge J, et al. (2005). "NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population". Am. J. Med. Genet. B Neuropsychiatr. Genet. 132 (1): 74–5. doi:10.1002/ajmg.b.30066. PMID15389766.
Yan J, Oliveira G, Coutinho A, et al. (2005). "Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients". Mol. Psychiatry. 10 (4): 329–32. doi:10.1038/sj.mp.4001629. PMID15622415.
Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID16303743.
Blasi F, Bacchelli E, Pesaresi G, et al. (2006). "Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection". Am. J. Med. Genet. B Neuropsychiatr. Genet. 141 (3): 220–1. doi:10.1002/ajmg.b.30287. PMID16508939.
Yamakawa H, Oyama S, Mitsuhashi H, et al. (2007). "Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations". Biochem. Biophys. Res. Commun. 355 (1): 41–6. doi:10.1016/j.bbrc.2007.01.127. PMID17292328.