Neuroligin-4, X-linked is a protein that in humans is encoded by the NLGN4X gene.[3][4]
In the human brain, the synaptic protein NLGN4 is primarily expressed in the cerebral cortex.[5]
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.[4]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000146938 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O (October 1999). "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. doi:10.1093/dnares/6.5.337. PMID 10574462.
- ^ a b "Entrez Gene: NLGN4X neuroligin 4, X-linked".
- ^ Marro SG, Chanda S, Yang N, Janas JA, Valperga G, Trotter J, et al. (June 2019). "Neuroligin-4 Regulates Excitatory Synaptic Transmission in Human Neurons". Neuron. 103 (4): 617–626.e6. doi:10.1016/j.neuron.2019.05.043. PMC 6706319. PMID 31257103.
Further reading
- Cantallops I, Cline HT (September 2000). "Synapse formation: if it looks like a duck and quacks like a duck". Current Biology. 10 (17): R620-3. doi:10.1016/S0960-9822(00)00663-1. PMID 10996085.
- Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, et al. (September 1997). "Binding of neuroligins to PSD-95". Science. 277 (5331): 1511–5. doi:10.1126/science.277.5331.1511. PMID 9278515.
- Bolliger MF, Frei K, Winterhalter KH, Gloor SM (June 2001). "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. doi:10.1042/0264-6021:3560581. PMC 1221872. PMID 11368788.
- Jamain S, Quach H, Betancur C, Råstam M, Colineaux C, Gillberg IC, et al. (May 2003). "Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism". Nature Genetics. 34 (1): 27–9. doi:10.1038/ng1136. PMC 1925054. PMID 12669065.
- Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, et al. (March 2004). "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. doi:10.1086/382137. PMC 1182268. PMID 14963808.
- Zhang Z, Henzel WJ (October 2004). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Science. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMC 2286551. PMID 15340161.
- Yan J, Oliveira G, Coutinho A, Yang C, Feng J, Katz C, et al. (April 2005). "Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients". Molecular Psychiatry. 10 (4): 329–32. doi:10.1038/sj.mp.4001629. hdl:10400.18/346. PMID 15622415. S2CID 17530049.
- Blasi F, Bacchelli E, Pesaresi G, Carone S, Bailey AJ, Maestrini E (April 2006). "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. doi:10.1002/ajmg.b.30287. PMID 16508939. S2CID 42297317.
- Talebizadeh Z, Lam DY, Theodoro MF, Bittel DC, Lushington GH, Butler MG (May 2006). "Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism". Journal of Medical Genetics. 43 (5): e21. doi:10.1136/jmg.2005.036897. PMC 2564526. PMID 16648374.
- Yamakawa H, Oyama S, Mitsuhashi H, Sasagawa N, Uchino S, Kohsaka S, Ishiura S (March 2007). "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. doi:10.1016/j.bbrc.2007.01.127. PMID 17292328.
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