NLGN4X explained

Neuroligin-4, X-linked is a protein that in humans is encoded by the NLGN4X gene.^{[1] [2]}

In the human brain, the synaptic protein NLGN4 is primarily expressed in the cerebral cortex.^[3]

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. The encoded protein interacts with discs, large (Drosophila) homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Two transcript variants encoding the same protein have been identified for this gene.

Further reading

• Cantallops I, Cline HT . Synapse formation: if it looks like a duck and quacks like a duck . Current Biology . 10 . 17 . R620-3 . September 2000 . 10996085 . 10.1016/S0960-9822(00)00663-1 . free .
• Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, Takai Y, Rosahl TW, Südhof TC . 6 . Binding of neuroligins to PSD-95 . Science . 277 . 5331 . 1511–5 . September 1997 . 9278515 . 10.1126/science.277.5331.1511 .
• Bolliger MF, Frei K, Winterhalter KH, Gloor SM . Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression . The Biochemical Journal . 356 . Pt 2 . 581–8 . June 2001 . 11368788 . 1221872 . 10.1042/0264-6021:3560581 .
• Jamain S, Quach H, Betancur C, Råstam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T . 6 . Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism . Nature Genetics . 34 . 1 . 27–9 . May 2003 . 12669065 . 1925054 . 10.1038/ng1136 .
• Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BC, Andres C, Barthélémy C, Moraine C, Briault S . 6 . X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family . American Journal of Human Genetics . 74 . 3 . 552–7 . March 2004 . 14963808 . 1182268 . 10.1086/382137 .
• Zhang Z, Henzel WJ . Signal peptide prediction based on analysis of experimentally verified cleavage sites . Protein Science . 13 . 10 . 2819–24 . October 2004 . 15340161 . 2286551 . 10.1110/ps.04682504 .
• Yan J, Oliveira G, Coutinho A, Yang C, Feng J, Katz C, Sram J, Bockholt A, Jones IR, Craddock N, Cook EH, Vicente A, Sommer SS . 6 . Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients . Molecular Psychiatry . 10 . 4 . 329–32 . April 2005 . 15622415 . 10.1038/sj.mp.4001629 . 10400.18/346 . 17530049 . free .
• Blasi F, Bacchelli E, Pesaresi G, Carone S, Bailey AJ, Maestrini E . Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection . American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics . 141B . 3 . 220–1 . April 2006 . 16508939 . 10.1002/ajmg.b.30287 . 42297317 .
• Talebizadeh Z, Lam DY, Theodoro MF, Bittel DC, Lushington GH, Butler MG . Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism . Journal of Medical Genetics . 43 . 5 . e21 . May 2006 . 16648374 . 2564526 . 10.1136/jmg.2005.036897 .
• Yamakawa H, Oyama S, Mitsuhashi H, Sasagawa N, Uchino S, Kohsaka S, Ishiura S . Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations . Biochemical and Biophysical Research Communications . 355 . 1 . 41–6 . March 2007 . 17292328 . 10.1016/j.bbrc.2007.01.127 .

Notes and References

1. Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O . Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro . DNA Research . 6 . 5 . 337–45 . October 1999 . 10574462 . 10.1093/dnares/6.5.337 . free .
2. Web site: Entrez Gene: NLGN4X neuroligin 4, X-linked.
3. Marro SG, Chanda S, Yang N, Janas JA, Valperga G, Trotter J, Zhou B, Merrill S, Yousif I, Shelby H, Vogel H, Kalani MY, Südhof TC, Wernig M . 6 . Neuroligin-4 Regulates Excitatory Synaptic Transmission in Human Neurons . Neuron . 103 . 4 . 617–626.e6 . June 2019 . 31257103 . 6706319 . 10.1016/j.neuron.2019.05.043 .