Gene Symbol: VAX1
Description: ventral anterior homeobox 1
Alias: MCOPS11, ventral anterior homeobox 1
Species: human
Products:     VAX1

Top Publications

  1. Mangold E, Ludwig K, Birnbaum S, Baluardo C, Ferrian M, Herms S, et al. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet. 2010;42:24-6 pubmed publisher
    ..07 x 10(-8), relative risk in homozygotes = 1.84, 95% CI 1.34-2.53) and 10q25.3 (rs7078160, combined P = 1.92 x 10(-8), relative risk in homozygotes = 2.17, 95% CI 1.32-3.56). ..
  2. Slavotinek A, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, et al. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. Hum Mutat. 2012;33:364-8 pubmed publisher
    b>Vax1 and Vax2 have been implicated in eye development and the closure of the choroid fissure in mice and zebrafish. We sequenced the coding exons of VAX1 and VAX2 in 70 patients with anophthalmia/microphthalmia (A/M)...
  3. Nasser E, Mangold E, Tradowsky D, Fier H, Becker J, Boehmer A, et al. Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate. Birth Defects Res A Clin Mol Teratol. 2012;94:925-33 pubmed publisher
    ..3 and NSCL/P in European samples. One gene at 10q25.3, the ventral anterior homeobox 1 (VAX1) gene, is considered a strong candidate gene for craniofacial malformations...
  4. Lee J, Lee B, Gross J. Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomata. Hum Mol Genet. 2013;22:3568-82 pubmed publisher
    ..Our data demonstrate that Bcl6a acts downstream of Vax1 and Vax2, known regulators of ventral optic cup formation and choroid fissure closure, and that bcl6a is a direct ..
  5. Newman E, Kim D, Wan J, Wang J, Qian J, Blackshaw S. Foxd1 is required for terminal differentiation of anterior hypothalamic neuronal subtypes. Dev Biol. 2018;439:102-111 pubmed publisher
    ..During early stages of neurogenesis, we observed that Foxd1-deficient mice showed reduced expression of Six3 and Vax1 in anterior hypothalamus, but overall patterning of the prethalamus and hypothalamus is unaffected...
  6. Hunnekuhl V, Akam M. An anterior medial cell population with an apical-organ-like transcriptional profile that pioneers the central nervous system in the centipede Strigamia maritima. Dev Biol. 2014;396:136-49 pubmed publisher
    ..Some also express markers of hypothalamic neurons, including otp, vtn and vax1. These medial neurosecretory cells of the centipede are distinct from those of the pars intercerebralis, the ..
  7. Kim N, Min K, Kang K, Lee E, Kim H, Moon K, et al. Regulation of retinal axon growth by secreted Vax1 homeodomain protein. elife. 2014;3:e02671 pubmed publisher
    ..b>Ventral anterior homeobox 1 (Vax1) plays an essential role in the development of the OC by regulating RGC axon growth in a non-cell ..
  8. Zawiślak A, Wozniak K, Jakubowska A, Lubinski J, Kawala B, Znamirowska Bajowska A. Polymorphic variants in VAX1 gene (rs7078160) and BMP4 gene (rs762642) and the risk of non-syndromic orofacial clefts in the Polish population. Dev Period Med. 2014;18:16-22 pubmed
    The aim of this study was to investigate the contribution of reported candidate genes: VAX1 (rs7078160) and BMP4 (rs762642) to the risk of cleft lip with or without cleft palate in the Polish population...
  9. Zhang B, Shi J, Lin Y, Shi B, Jia Z. VAX1 gene associated non-syndromic cleft lip with or without palate in Western Han Chinese. Arch Oral Biol. 2018;95:40-43 pubmed publisher
    ..Recently, GWA studies identified associations between NSCL/P and two genetic risk loci, rs7078160 and rs4752028, at VAX1. Currently, we tried to investigate the roles of the two loci among 302 NSCL/P trios (129 non-syndromic cleft lip ..

More Information


  1. Hoffmann H, Mellon P. A small population of hypothalamic neurons govern fertility: the critical role of VAX1 in GnRH neuron development and fertility maintenance. Neurosci Commun (Houst). 2016;2: pubmed
    ..Using a combined in vitro and in vivo approach, we have identified Ventral Anterior Homeobox 1 (Vax1) as a novel homeodomain transcription factor responsible for GnRH neuron maturation and ..
  2. de Araujo T, Secolin R, Félix T, de Souza L, Fontes M, Monlleó I, et al. A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population. J Craniomaxillofac Surg. 2016;44:16-20 pubmed publisher
    ..genes were significantly associated with the etiology of NSCLP, including MSX1, SPRY1, MSX2, PRSS35, TFAP2A, SHH, VAX1, TBX10, WNT11, PAX9, BMP4, JAG2, AXIN2, DVL2, KIF7, and TCBE3...
  3. Gowans L, Adeyemo W, Eshete M, Mossey P, Busch T, Aregbesola B, et al. Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations. J Dent Res. 2016;95:1245-56 pubmed publisher
    ..10 × 10(-3)), 8q24 (rs987525, P = 1.22 × 10(-3)), and VAX1 (rs7078160, P = 0.04) were nominally associated with NSCL/P, and MSX1 (rs115200552, P = 0...
  4. Hoffmann H, Trang C, Gong P, Kimura I, Pandolfi E, Mellon P. Deletion of Vax1 from Gonadotropin-Releasing Hormone (GnRH) Neurons Abolishes GnRH Expression and Leads to Hypogonadism and Infertility. J Neurosci. 2016;36:3506-18 pubmed publisher
    ..Herein we demonstrate a critical role for the homeodomain transcription factor ventral anterior homeobox 1 (VAX1) in GnRH neuron maturation and show that Vax1 deletion from GnRH neurons leads to complete ..
  5. Suzuki A, Abdallah N, Gajera M, Jun G, Jia P, Zhao Z, et al. Genes and microRNAs associated with mouse cleft palate: A systematic review and bioinformatics analysis. Mech Dev. 2018;150:21-27 pubmed publisher
    ..Human genotype-phenotype analysis revealed that variants in five human homologous CP genes (IRF6, FOXE1, VAX1, WNT9B, and GAD1) significantly contributed to the human CP phenotype...
  6. Butali A, Suzuki S, Cooper M, Mansilla A, Cuenco K, Leslie E, et al. Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P). Am J Med Genet A. 2013;161A:965-72 pubmed publisher
    ..To replicate two of these GWAS signals, we investigated the role of common and rare variants in the PAX7 and VAX1 genes...
  7. Holland P, Booth H, Bruford E. Classification and nomenclature of all human homeobox genes. BMC Biol. 2007;5:47 pubmed
    ..The classification scheme may be widely applicable to homeobox genes in other animal genomes and will facilitate comparative genomics of this important gene superclass. ..
  8. Li D, Liu T, Meng X, Guo Q, Shi J, Hao Y, et al. Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China. Medicine (Baltimore). 2017;96:e6550 pubmed publisher
    ..Genome-wide association study (GWAS) identified a novel susceptibility locus of ventral anterior homeobox 1 (VAX1) in patients with NSCL/P...
  9. Geoghegan F, Xavier G, Birjandi A, Seppala M, Cobourne M. Vax1 Plays an Indirect Role in the Etiology of Murine Cleft Palate. J Dent Res. 2017;96:1555-1562 pubmed publisher
    ..b>VAX1 encodes a homeobox-containing transcription factor identified as a candidate gene for CLP in human populations, ..
  10. Barbieri A, Lupo G, Bulfone A, Andreazzoli M, Mariani M, Fougerousse F, et al. A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis. Proc Natl Acad Sci U S A. 1999;96:10729-34 pubmed
    ..We named this gene vax2 because of the high degree of sequence similarity to the recently described vax1. Both in the human and mouse genomes, vax2 is localized in the vicinity of the emx1 gene...
  11. Hallonet M, Hollemann T, Wehr R, Jenkins N, Copeland N, Pieler T, et al. Vax1 is a novel homeobox-containing gene expressed in the developing anterior ventral forebrain. Development. 1998;125:2599-610 pubmed
    ..Here, we report the identification of Vax1, a novel homeobox-containing gene identified in mouse, Xenopus and human...
  12. de Aquino S, Messetti A, Bagordakis E, Martelli Junior H, Swerts M, Graner E, et al. Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate. BMC Med Genet. 2013;14:53 pubmed publisher fibroblast growth factor 12 (FGF12), vinculin (VCL), connexin 43 (CX43) and in a region close to the ventral anterior homeobox 1 (VAX1) gene...
  13. Peng H, Chang N, Chen K, Lu J, Chang P, Chang S, et al. Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population. BMC Med Genet. 2016;17:59 pubmed publisher
    ..BMP4, CRISPLD2, GSTT1, FGF8, FGFR2, FOXE1, IRF6, MAFB, MSX1, MTHFR, MYH9, PDGFC, PVRL1, SUMO1, TGFA, TGFB3, and VAX1), each of which confers a different relative risk in different populations...
  14. Hoffmann H, Gong P, Tamrazian A, Mellon P. Transcriptional interaction between cFOS and the homeodomain-binding transcription factor VAX1 on the GnRH promoter controls Gnrh1 expression levels in a GnRH neuron maturation specific manner. Mol Cell Endocrinol. 2018;461:143-154 pubmed publisher
    ..GnRH neuron development depends on transcription factors of the homeodomain family. For example, Ventral anterior homeobox 1 (Vax1) is necessary to maintain GnRH expression after embryonic day 13 in the mouse...