Gene Symbol: NRXN1
Description: neurexin 1
Alias: Hs.22998, PTHSL2, SCZD17, neurexin-1, neurexin I
Species: human
Products:     NRXN1

Top Publications

  1. Ushkaryov Y, Petrenko A, Geppert M, Sudhof T. Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin. Science. 1992;257:50-6 pubmed
    ..An antibody to neurexin I showed highly concentrated immunoreactivity at the synapse...
  2. Ikeda M, Aleksic B, Kirov G, Kinoshita Y, Yamanouchi Y, Kitajima T, et al. Copy number variation in schizophrenia in the Japanese population. Biol Psychiatry. 2010;67:283-6 pubmed publisher
    ..The best supported findings are at 1q21.1, 15q11.2, 15q13.3, and 22q11.2 and deletions at the gene neurexin 1 (NRXN1). In this study, we used Affymetrix 5...
  3. Ching M, Shen Y, Tan W, Jeste S, Morrow E, Chen X, et al. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:937-47 pubmed publisher
    Research has implicated mutations in the gene for neurexin-1 (NRXN1) in a variety of conditions including autism, schizophrenia, and nicotine dependence...
  4. Ichtchenko K, Nguyen T, Sudhof T. Structures, alternative splicing, and neurexin binding of multiple neuroligins. J Biol Chem. 1996;271:2676-82 pubmed
    ..Thus, neuroligins constitute a multigene family of brain-specific proteins with distinct isoforms that may have overlapping functions in mediating recognition processes between neurons. ..
  5. O Dushlaine C, Kenny E, Heron E, Donohoe G, Gill M, Morris D, et al. Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. Mol Psychiatry. 2011;16:286-92 pubmed publisher
    ..01). At a gene level, CAM genes associated in all three samples (NRXN1 and CNTNAP2), which were previously implicated in specific language disorder, autism and schizophrenia...
  6. Vrijenhoek T, Buizer Voskamp J, van der Stelt I, Strengman E, Sabatti C, Geurts van Kessel A, et al. Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet. 2008;83:504-10 pubmed publisher
    ..Among the genes disrupted by the remaining rare CNVs are MYT1L, CTNND2, NRXN1, and ASTN2, genes that play an important role in neuronal functioning but--except for NRXN1--have not been ..
  7. Biederer T, Sudhof T. Mints as adaptors. Direct binding to neurexins and recruitment of munc18. J Biol Chem. 2000;275:39803-6 pubmed
    ..Our data support a model whereby one of the functions of Mints is to localize the vesicle fusion protein Munc18 to those sites at the plasma membrane that are defined by neurexins, presumably in the vicinity of points of exocytosis. ..
  8. Verweij K, Zietsch B, Medland S, Gordon S, Benyamin B, Nyholt D, et al. A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality. Biol Psychol. 2010;85:306-17 pubmed publisher
  9. Harrison V, Connell L, Hayesmoore J, McParland J, Pike M, Blair E. Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. Am J Med Genet A. 2011;155A:2826-31 pubmed publisher
    b>Neurexin 1 (NRXN1) is a cell adhesion protein, the normal function of which is critical for effective neurotransmission. It forms a trans-synaptic complex in the central nervous system with neuroligin...

More Information


  1. Rujescu D, Ingason A, Cichon S, Pietiläinen O, Barnes M, Toulopoulou T, et al. Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet. 2009;18:988-96 pubmed publisher
    Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia...
  2. Kirov G, Gumus D, Chen W, Norton N, Georgieva L, Sari M, et al. Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet. 2008;17:458-65 pubmed
    ..The first one is a deletion at 2p16.3 that was present in an affected sibling and disrupts NRXN1. The second one is a de novo duplication at 15q13.1 spanning APBA2...
  3. Need A, Ge D, Weale M, Maia J, Feng S, Heinzen E, et al. A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet. 2009;5:e1000373 pubmed publisher
    ..provide further evidence for some smaller, previously reported, schizophrenia-associated CNVs, such as those in NRXN1 and APBA2...
  4. Yan J, Noltner K, Feng J, Li W, Schroer R, Skinner C, et al. Neurexin 1alpha structural variants associated with autism. Neurosci Lett. 2008;438:368-70 pubmed publisher
    ..1/192; P=0.03, Fisher's exact test, one-sided). In the context of all available data, the ultra-rare structural variants of the neurexin 1alpha gene are consistent with mutations predisposing to autism. ..
  5. Kim H, Kishikawa S, Higgins A, Seong I, Donovan D, Shen Y, et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet. 2008;82:199-207 pubmed publisher
    ..We have implicated the neurexin 1 (NRXN1) gene in two independent subjects who display an autism spectrum disorder (ASD) in association with a ..
  6. Etherton M, Blaiss C, Powell C, Südhof T. Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments. Proc Natl Acad Sci U S A. 2009;106:17998-8003 pubmed publisher
    ..Together, these data indicate that the neurexin-1alpha deficiency induces a discrete neural phenotype whose extent correlates, at least in part, with impairments observed in human patients. ..
  7. Zweier C, de Jong E, Zweier M, Orrico A, Ousager L, Collins A, et al. CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet. 2009;85:655-66 pubmed publisher
    Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, have been repeatedly associated with a wide spectrum of neuropsychiatric disorders, such as developmental ..
  8. Rowen L, Young J, Birditt B, Kaur A, Madan A, Philipps D, et al. Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity. Genomics. 2002;79:587-97 pubmed
    ..genes is regulated, we have determined the complete nucleotide sequence of all three human neurexin genes: NRXN1, NRXN2, and NRXN3. Unexpectedly, two of these, NRXN1 ( approximately 1.1 Mb) and NRXN3 ( approximately 1...
  9. Graf E, Zhang X, Jin S, Linhoff M, Craig A. Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins. Cell. 2004;119:1013-26 pubmed
  10. Bierut L, Madden P, Breslau N, Johnson E, Hatsukami D, Pomerleau O, et al. Novel genes identified in a high-density genome wide association study for nicotine dependence. Hum Mol Genet. 2007;16:24-35 pubmed
    ..Our study nominates several novel genes, such as Neurexin 1 (NRXN1), in the development of nicotine dependence while also identifying a known candidate gene, the beta3 ..
  11. Chen X, Liu H, Shim A, Focia P, He X. Structural basis for synaptic adhesion mediated by neuroligin-neurexin interactions. Nat Struct Mol Biol. 2008;15:50-6 pubmed
    ..Mapping neuroligin mutations implicated in autism indicated that most such mutations are structurally destabilizing, supporting deficient neuroligin biosynthesis and processing as a common cause for this brain disorder. ..
  12. Sudhof T. Neuroligins and neurexins link synaptic function to cognitive disease. Nature. 2008;455:903-11 pubmed publisher
    ..In humans, alterations in genes encoding neurexins or neuroligins have recently been implicated in autism and other cognitive diseases, linking synaptic cell adhesion to cognition and its disorders. ..
  13. Feng J, Schroer R, Yan J, Song W, Yang C, Bockholt A, et al. High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett. 2006;409:10-3 pubmed
    ..In addition, no structural variant was found in the neurexin 2beta gene and the neurexin 3beta gene. In the context of all available data, we conclude that mutations of the neurexin 1beta gene may contribute to autism susceptibility. ..
  14. Ichtchenko K, Hata Y, Nguyen T, Ullrich B, Missler M, Moomaw C, et al. Neuroligin 1: a splice site-specific ligand for beta-neurexins. Cell. 1995;81:435-43 pubmed
    ..These findings support a model whereby alternative splicing of neurexins creates a family of cell surface receptors that confers interactive specificity onto their resident neurons. ..
  15. Novak G, Boukhadra J, Shaikh S, Kennedy J, Le Foll B. Association of a polymorphism in the NRXN3 gene with the degree of smoking in schizophrenia: a preliminary study. World J Biol Psychiatry. 2009;10:929-35 pubmed publisher
    Whole genome scan studies have recently identified the NRXN1 and NRXN3 genes as potential contributing factors in the risk for nicotine addiction...
  16. Gauthier J, Siddiqui T, Huashan P, Yokomaku D, Hamdan F, Champagne N, et al. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum Genet. 2011;130:563-73 pubmed publisher
    ..Copy number variations and deleterious mutations in synaptic organizing proteins including NRXN1 have been associated with these neurodevelopmental disorders, but no such associations have been reported for ..
  17. Wisniowiecka Kowalnik B, Nesteruk M, Peters S, Xia Z, Cooper M, Savage S, et al. Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:983-93 pubmed publisher
    b>NRXN1 is highly expressed in brain and has been shown recently to be associated with ASD, schizophrenia, cognitive and behavioral abnormalities, and alcohol and nicotine dependence...
  18. Hata Y, Butz S, Sudhof T. CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins. J Neurosci. 1996;16:2488-94 pubmed
    ..The cytoplasmic domains of all three neurexins bind CASK in a salt-labile interaction. In neurexin I, this interaction is dependent on the C-terminal three residues...
  19. Arac D, Boucard A, Ozkan E, Strop P, Newell E, Sudhof T, et al. Structures of neuroligin-1 and the neuroligin-1/neurexin-1 beta complex reveal specific protein-protein and protein-Ca2+ interactions. Neuron. 2007;56:992-1003 pubmed
    ..Our results provide molecular insights for understanding the role of cell-adhesion proteins in synapse function. ..
  20. Missler M, Sudhof T. Neurexins: three genes and 1001 products. Trends Genet. 1998;14:20-6 pubmed
    ..This review describes the properties of the neurexin protein family and their potential roles in neuronal cell adhesion and intercellular signaling. ..
  21. Tabuchi K, Sudhof T. Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing. Genomics. 2002;79:849-59 pubmed
    ..Consistent with their proposed role in synapse specification, neurexins thus have evolved from relatively simple genes in invertebrates to diversified genes in vertebrates with multiple promoters and extensive alternative splicing. ..
  22. Kirov G, Rujescu D, Ingason A, Collier D, O Donovan M, Owen M. Neurexin 1 (NRXN1) deletions in schizophrenia. Schizophr Bull. 2009;35:851-4 pubmed publisher
  23. Nussbaum J, Xu Q, Payne T, Ma J, Huang W, Gelernter J, et al. Significant association of the neurexin-1 gene (NRXN1) with nicotine dependence in European- and African-American smokers. Hum Mol Genet. 2008;17:1569-77 pubmed publisher
    The neurexin-1 gene (NRXN1) has been shown to play a fundamental role in synaptogenesis and synaptic maintenance, as well as Ca(2+) channel and NMDA receptor recruitment...
  24. Reissner C, Klose M, Fairless R, Missler M. Mutational analysis of the neurexin/neuroligin complex reveals essential and regulatory components. Proc Natl Acad Sci U S A. 2008;105:15124-9 pubmed publisher
  25. Magri C, Sacchetti E, Traversa M, Valsecchi P, Gardella R, Bonvicini C, et al. New copy number variations in schizophrenia. PLoS ONE. 2010;5:e13422 pubmed publisher
    ..with a CNV occurring in one of the regions most convincingly implicated as risk factors for schizophrenia: NRXN1 and the 16p13.1 regions were found to be deleted in single patients and 15q11.2 in 2 patients, whereas the 15q13...
  26. Bucan M, Abrahams B, Wang K, Glessner J, Herman E, Sonnenblick L, et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 2009;5:e1000536 pubmed publisher
    ..Rare variants at known loci, including exonic deletions at NRXN1 and whole gene duplications encompassing UBE3A and several other genes in the 15q11-q13 region, were observed in ..
  27. Ullrich B, Ushkaryov Y, Sudhof T. Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons. Neuron. 1995;14:497-507 pubmed
    ..Characterization of many independent bovine neurexin I alpha cDNAs suggests that different splice sites are used independently...
  28. Zahir F, Baross A, Delaney A, Eydoux P, Fernandes N, Pugh T, et al. A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. J Med Genet. 2008;45:239-43 pubmed
    ..3. The patient's deletion is approximately 320 kb in size and includes only the part of the NRXN1 gene that codes for the neurexin1alpha promoter and initial coding exons...
  29. Shah A, Tioleco N, Nolan K, Locker J, Groh K, Villa C, et al. Rare NRXN1 promoter variants in patients with schizophrenia. Neurosci Lett. 2010;475:80-4 pubmed publisher
    Copy number variants (CNVs) affecting the neurexin 1 (NRXN1) gene have been found in a subgroup of patients with schizophrenia (SZ)...
  30. Missler M, Zhang W, Rohlmann A, Kattenstroth G, Hammer R, Gottmann K, et al. Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis. Nature. 2003;423:939-48 pubmed
    ..These data suggest that alpha-neurexins organize presynaptic terminals by functionally coupling Ca2+ channels to the presynaptic machinery. ..
  31. Missler M, Hammer R, Sudhof T. Neurexophilin binding to alpha-neurexins. A single LNS domain functions as an independently folding ligand-binding unit. J Biol Chem. 1998;273:34716-23 pubmed
    ..The results support the notion that neurexophilins represent a family of extracellular signaling molecules that interact with multiple receptors including all three alpha-neurexins. ..
  32. Kirov G. CNVs in neuropsychiatric disorders. Hum Mol Genet. 2015;24:R45-9 pubmed publisher
    ..1, NRXN1, 3q29, 15q11.2, 15q13.3 and 22q11.2, and duplications at 1q21.1, 7q11.23, 15q11.2-q13.1, 16p13...
  33. Duong L, Klitten L, Møller R, Ingason A, Jakobsen K, Skjødt C, et al. Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders. Am J Med Genet B Neuropsychiatr Genet. 2012;159B:354-8 pubmed publisher
    Mutation of the neurexin1-gene, NRXN1, interrupting the expression of neurexin1 has been associated with schizophrenia, autism, and intellectual disability...
  34. Qing T, Zhu S, Suo C, Zhang L, Zheng Y, Shi L. Somatic mutations in ZFHX4 gene are associated with poor overall survival of Chinese esophageal squamous cell carcinoma patients. Sci Rep. 2017;7:4951 pubmed publisher
    ..Importantly, mutations in ZFHX4, SPHKAP, NRXN1, KIAA1109, DNAH5 and KCNH7 were associated with poor survival...
  35. Gangwar S, Zhong X, Seshadrinathan S, Chen H, Machius M, Rudenko G. Molecular Mechanism of MDGA1: Regulation of Neuroligin 2:Neurexin Trans-synaptic Bridges. Neuron. 2017;94:1132-1141.e4 pubmed publisher
    ..Strikingly, Ig1 from MDGA1 binds to the same region on NLGN2 as neurexins do. Thus, MDGAs regulate the formation of neuroligin-neurexin trans-synaptic bridges by sterically blocking access of neurexins to neuroligins. ..
  36. Hock B, Böhme B, Karn T, Yamamoto T, Kaibuchi K, Holtrich U, et al. PDZ-domain-mediated interaction of the Eph-related receptor tyrosine kinase EphB3 and the ras-binding protein AF6 depends on the kinase activity of the receptor. Proc Natl Acad Sci U S A. 1998;95:9779-84 pubmed
  37. Harkin L, LINDSAY S, Xu Y, Alzu bi A, Ferrara A, Gullon E, et al. Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex. Cereb Cortex. 2017;27:216-232 pubmed publisher
    ..However, the levels of expression were not identical; NRXN1 increased with age and NRXN2 levels were consistently higher than for NRXN3...
  38. Pak C, Danko T, Zhang Y, Aoto J, ANDERSON G, Maxeiner S, et al. Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1. Cell Stem Cell. 2015;17:316-28 pubmed publisher
    Heterozygous mutations of the NRXN1 gene, which encodes the presynaptic cell-adhesion molecule neurexin-1, were repeatedly associated with autism and schizophrenia...
  39. Pandey H, Bourahmoune K, Honda T, Honjo K, Kurita K, Sato T, et al. Genetic interaction of DISC1 and Neurexin in the development of fruit fly glutamatergic synapses. NPJ Schizophr. 2017;3:39 pubmed publisher
    ..We found that DISC1 interacts with dnrx1, the Drosophila homolog of the human Neurexin (NRXN1) gene, in the development of glutamatergic synapses...
  40. Mühleisen T, Basmanav F, Forstner A, Mattheisen M, Priebe L, Herms S, et al. Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients. Schizophr Res. 2011;127:35-40 pubmed publisher
    Large rare deletions in NRXN1 increase the risk for schizophrenia...
  41. Jenkins A, Apud J, Zhang F, Decot H, Weinberger D, Law A. Identification of candidate single-nucleotide polymorphisms in NRXN1 related to antipsychotic treatment response in patients with schizophrenia. Neuropsychopharmacology. 2014;39:2170-8 pubmed publisher
    ..Deletions and point mutations in the neurexin 1 (NRXN1) gene are associated with a broad spectrum of neuropsychiatric and neurodevelopmental disorders, ..
  42. Dachtler J, Ivorra J, Rowland T, Lever C, Rodgers R, Clapcote S. Heterozygous deletion of α-neurexin I or α-neurexin II results in behaviors relevant to autism and schizophrenia. Behav Neurosci. 2015;129:765-76 pubmed publisher
    ..Human genetic studies have found heterozygous deletions affecting NRXN1 and NRXN2, encoding α-neurexin I (Nrxn1α) and α-neurexin II (Nrxn2α), in individuals with autism spectrum disorders and schizophrenia...
  43. Koroll M, Rathjen F, Volkmer H. The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin-2, both of which reveal self-associating activity. J Biol Chem. 2001;276:10646-54 pubmed
    ..Despite their high sequence similarity to syntenin-1, syntenin-2alpha, which interacts with neurexin I, and syntenin-2beta do not bind to neurofascin or several other transmembrane proteins that are binding partners ..
  44. Kasem E, Kurihara T, Tabuchi K. Neurexins and neuropsychiatric disorders. Neurosci Res. 2018;127:53-60 pubmed publisher
    ..The neurexins consist of three genes (NRXN1, NRXN2, and NRXN3), each of which produces a longer ?- and shorter ?-form...
  45. Maphis N, Jiang S, Binder J, Wright C, Gopalan B, Lamb B, et al. Whole Genome Expression Analysis in a Mouse Model of Tauopathy Identifies MECP2 as a Possible Regulator of Tau Pathology. Front Mol Neurosci. 2017;10:69 pubmed publisher
    ..i>Pcsk2), and down-regulated genes: KRT12 (Krt12), LASS1 (Cers1), PLAT (Plat), and NRXN1 (Nrxn1)...
  46. Gregor A, Albrecht B, Bader I, Bijlsma E, Ekici A, Engels H, et al. Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet. 2011;12:106 pubmed publisher
    Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders, epilepsy and ..
  47. Chubykin A, Liu X, Comoletti D, Tsigelny I, Taylor P, Sudhof T. Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism. J Biol Chem. 2005;280:22365-74 pubmed
  48. Lee J, Espinera A, Chen D, Choi K, Caslin A, Won S, et al. Neonatal inflammatory pain and systemic inflammatory responses as possible environmental factors in the development of autism spectrum disorder of juvenile rats. J Neuroinflammation. 2016;13:109 pubmed publisher
    ..In the P21 rat's brain of the formalin group, the expression of autism-related gene neurexin 1 (NRXN1), fragile X mental retardation 1 (FMR1), and oxytocin was significantly downregulated, consistent with ..
  49. Saura C, Servián Morilla E, Scholl F. Presenilin/?-secretase regulates neurexin processing at synapses. PLoS ONE. 2011;6:e19430 pubmed publisher
    ..These results suggest that PS regulate the synaptic function and processing of neurexins at glutamatergic synapses, and that impaired neurexin processing by PS may play a role in FAD. ..
  50. Yue W, Yang Y, Zhang Y, Lu T, Hu X, Wang L, et al. A case-control association study of NRXN1 polymorphisms with schizophrenia in Chinese Han population. Behav Brain Funct. 2011;7:7 pubmed publisher
    Recent research has implicated that mutations in the neurexin-1 (NRXN1) gene on chromosome 2p16.3 might play a role in schizophrenia, autism, and nicotine dependence...
  51. Galán Sánchez F, Esteban Cantó V, Blaya Fernández P, Jadraque Rodríguez R, Manchón Trives I, Alcaraz Más L. [Intragenic deletions of NRXN1: three new case reports and a review of the phenotype]. Rev Neurol. 2015;60:215-8 pubmed
    To offer data on the phenotype determined by microdeletions of alpha exons in the NRXN1 gene. Three neuropaediatric cases of intragenic microdeletions of NRXN1 alpha are studied...
  52. Comoletti D, Flynn R, Jennings L, Chubykin A, Matsumura T, Hasegawa H, et al. Characterization of the interaction of a recombinant soluble neuroligin-1 with neurexin-1beta. J Biol Chem. 2003;278:50497-505 pubmed
    ..We show here that glycosylation processing of neuroligin, in addition to mRNA splicing and gene selection, contributes to the specificity of the neurexin-beta/neuroligin-1 association. ..
  53. Geppert M, Khvotchev M, Krasnoperov V, Goda Y, Missler M, Hammer R, et al. Neurexin I alpha is a major alpha-latrotoxin receptor that cooperates in alpha-latrotoxin action. J Biol Chem. 1998;273:1705-10 pubmed
    ..description of two distinct cell surface proteins that bind alpha-latrotoxin with nanomolar affinities; Neurexin I alpha binds alpha-latrotoxin in a Ca(2+)-dependent manner, and CIRL/latrophilin binds in a Ca(2+)-independent ..
  54. Fukuda M, Mikoshiba K. Characterization of KIAA1427 protein as an atypical synaptotagmin (Syt XIII). Biochem J. 2001;354:249-57 pubmed
    ..Since Syt XIII is expressed in various tissues outside the brain, Syt XIII may be involved in constitutive vesicle transport. ..
  55. Yue W, Yu X, Zhang D. Progress in genome-wide association studies of schizophrenia in Han Chinese populations. NPJ Schizophr. 2017;3:24 pubmed publisher
    ..2, 15q11.2-13.1, 7q11.23, and VIPR2 and deletions at 22q11.2, 1q21.1-q21.2, and NRXN1. However, these studies have identified some potential confounding factors, such as genetic heterogeneity and the ..
  56. Yan Q, Weyn Vanhentenryck S, Wu J, Sloan S, Zhang Y, Chen K, et al. Systematic discovery of regulated and conserved alternative exons in the mammalian brain reveals NMD modulating chromatin regulators. Proc Natl Acad Sci U S A. 2015;112:3445-50 pubmed publisher
    ..Our results highlight previously uncharacterized complexity and evolution in the mammalian brain transcriptome. ..
  57. Magnusson P, Lee D, Chen X, Szatkiewicz J, Pramana S, Teo S, et al. One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins. Twin Res Hum Genet. 2016;19:97-103 pubmed publisher
    ..selected for validation by quantitative polymerase chain reaction (qPCR), from which one single ~120kb deletion in NRXN1 on chromosome 2 (bp 51017111-51136802) was validated...
  58. Lett T, Tiwari A, Meltzer H, Lieberman J, Potkin S, Voineskos A, et al. The putative functional rs1045881 marker of neurexin-1 in schizophrenia and clozapine response. Schizophr Res. 2011;132:121-4 pubmed publisher
    Neurexin-1 (NRXN1) modulates recruitment of NMDA receptors. Furthermore, clozapine reduces hyperactivity of NMDA receptors. Thus, regulation of the NRXN1 gene may mediate the efficacy of clozapine at reducing cortical hyperactivity...
  59. Lee S, Park T, Won S, Song J, Lee K, Choi J, et al. Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23). Cancer Genet Cytogenet. 2010;197:32-8 pubmed publisher
    ..Furthermore, the novel third partner gene, NRXN1, was detected by systematic breakpoint analysis using long-distance inverse-PCR methods (LDI-PCR)...
  60. Dabell M, Rosenfeld J, Bader P, Escobar L, El Khechen D, Vallee S, et al. Investigation of NRXN1 deletions: clinical and molecular characterization. Am J Med Genet A. 2013;161A:717-31 pubmed publisher
    Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features...
  61. Shangjie X, Xiaochun Z, Wenyi Y, Wuping G, Ying Z, Qiuming H, et al. TGF-β1, Ghrelin, Neurexin, and Neuroligin are predictive biomarkers for postoperative prognosis of laparoscopic surgery in children with Hirschsprung disease. Cell Biochem Biophys. 2015;71:1249-54 pubmed publisher children. It has a high value for predicting prognosis of children patients with Hirschsprung disease after surgical intervention. ..
  62. Kleiderlein J, Nisson P, Jessee J, Li W, Becker K, Derby M, et al. CCG repeats in cDNAs from human brain. Hum Genet. 1998;103:666-73 pubmed
    ..This list of cDNAs should expedite the search for expansion mutations associated with diseases of the central nervous system. ..
  63. Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, et al. Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. Am J Hum Genet. 2013;92:375-86 pubmed publisher
    b>NRXN1 microdeletions occur at a relatively high frequency and confer increased risk for neurodevelopmental and neurobehavioral abnormalities. The mechanism that makes NRXN1 a deletion hotspot is unknown...
  64. Jenkins A, Paterson C, Wang Y, Hyde T, Kleinman J, Law A. Neurexin 1 (NRXN1) splice isoform expression during human neocortical development and aging. Mol Psychiatry. 2016;21:701-6 pubmed publisher
    b>Neurexin 1 (NRXN1), a presynaptic cell adhesion molecule, is implicated in several neurodevelopmental disorders characterized by synaptic dysfunction including autism, intellectual disability and schizophrenia...
  65. Blake D, Forrest M, Chapman R, Tinsley C, O Donovan M, Owen M. TCF4, schizophrenia, and Pitt-Hopkins Syndrome. Schizophr Bull. 2010;36:443-7 pubmed publisher
    ..Recessive forms of Pitt-Hopkins syndrome are caused by mutations in NRXN1 and CNTNAP2...
  66. Twining R, Vantrease J, Love S, Padival M, Rosenkranz J. An intra-amygdala circuit specifically regulates social fear learning. Nat Neurosci. 2017;20:459-469 pubmed publisher
    ..Rats with impaired social guidance of behavior due to knockout of Nrxn1, an analog of autism-associated gene NRXN, exhibited marked LA-MeA deficits...
  67. Holmquist P. A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1. Clin Dysmorphol. 2015;24:75-8 pubmed publisher
  68. Leone P, Comoletti D, Ferracci G, Conrod S, Garcia S, Taylor P, et al. Structural insights into the exquisite selectivity of neurexin/neuroligin synaptic interactions. EMBO J. 2010;29:2461-71 pubmed publisher
    ..Although neuroligin-1 and neuroligin-2 have pre-determined conformations that respectively promote and prevent Nrx1beta association, unique conformational reshaping of the NL4 surface is required to permit Nrx1beta association. ..
  69. Servián Morilla E, Robles Lanuza E, Sánchez Hidalgo A, Camacho Garcia R, Paez Gomez J, Mavillard F, et al. Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release. J Neurosci. 2018;38:901-917 pubmed publisher that activation of presynaptic Nrxns with postsynaptic Nlgn1 or inhibition of ectodomain shedding in axonal Nrxn1-β increases presynaptic release at individual terminals, likely reflecting an increase in the number of ..
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    b>Neurexin 1 has two major protein isoforms using alternative promoters, coding for the alpha-neurexin 1 (?-NRXN1) and beta-neurexin 1 (?-NRXN1) genes...
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    ..To further explore the role of the NRXN1? gene in neurodevelopmental disorders, we have sequenced the coding exons of the gene in 86 cases with autism and ..
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    ..Neurexin-1α is the only transmembrane component of the docking machinery identified thus far. Our findings provide new insights into the mechanisms of insulin granule docking and exocytosis. ..