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Gene Review

ARX  -  aristaless related homeobox

Homo sapiens

Synonyms: Aristaless-related homeobox, CT121, EIEE1, Homeobox protein ARX, ISSX, ...
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Disease relevance of ARX


Psychiatry related information on ARX


High impact information on ARX


Chemical compound and disease context of ARX


Biological context of ARX

  • The ARX gene is emerging as one of the more important disease-causing genes on the X chromosome and ought to be considered for routine screening [7].
  • Our data suggest expansions in one of the ARX polyA tracts results in nuclear protein aggregation and an increase in cell death; likely underlying the pathogenesis of the associated infantile spasms and mental retardation [12].
  • Mutations of ARX are associated with a wide range of phenotypes; functional studies in the future may lend insights to the neurobiology of myoclonic seizures and infantile spasms [14].
  • We also mapped the murine Arx gene to the mouse genome using a mouse/hamster radiation hybrid panel and showed that Arx and ARX are orthologues [15].
  • The authors assessed ARX as a candidate gene for XLAG in a genetic analysis of neuronal migration disorders and found two different point mutations in two XLAG pedigrees affecting the homeodomain of the protein, confirming that ARX is a causative gene for XLAG [16].

Anatomical context of ARX


Associations of ARX with chemical compounds

  • Cerebral state index during propofol anesthesia: a comparison with the bispectral index and the A-line ARX index [20].
  • With the prediction probability statistic during remifentanil washout, SVDEN = 0.79, spectral entropy = 0.81, A-Line ARX AEP index = 0.63, and BIS = 0.58 [21].
  • A comparison of bispectral index and ARX-derived auditory evoked potential index in measuring the clinical interaction between ketamine and propofol anaesthesia [22].
  • The A-line ARX index decreased at 2% sevoflurane compared with 0.5%, while the bispectral index remained unchanged [23].
  • Propofol ensures a more stable A-line ARX index than thiopental during intubation [24].

Other interactions of ARX


Analytical, diagnostic and therapeutic context of ARX

  • Northern blot analysis showed that a 3.3kb human ARX transcript was expressed at high levels in fetal brain [15].
  • We examined the correlation between 1) the clinically assessed state of consciousness, 2) implicit and explicit memory (by use of word pairs), and 3) various measures of EEG and AEP-bispectral index (BIS), A-Line ARX AEP index, spectral entropy, and entropy of the singular value decomposition (SVDEN; a measure of the complexity of the EEG) [21].
  • Attenuation of the A-line ARX-index (AAI) for mid-latency auditory evoked potentials (MLAEP) during general anesthesia was profound [27].
  • The A-line ARX index, but not the bispectral index, increased significantly by laryngeal mask airway insertion and skin incision [23].
  • The hypothesis of the present study was that since the ARX-model extracts the AEP faster than the MTA-model, the former should be able to detect changes during the brief, intense stimulus of endotracheal intubation [8].


  1. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Kalscheuer, V.M., Tao, J., Donnelly, A., Hollway, G., Schwinger, E., Kübart, S., Menzel, C., Hoeltzenbein, M., Tommerup, N., Eyre, H., Harbord, M., Haan, E., Sutherland, G.R., Ropers, H.H., Gécz, J. Am. J. Hum. Genet. (2003) [Pubmed]
  2. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Strømme, P., Mangelsdorf, M.E., Shaw, M.A., Lower, K.M., Lewis, S.M., Bruyere, H., Lütcherath, V., Gedeon, A.K., Wallace, R.H., Scheffer, I.E., Turner, G., Partington, M., Frints, S.G., Fryns, J.P., Sutherland, G.R., Mulley, J.C., Gécz, J. Nat. Genet. (2002) [Pubmed]
  3. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Strømme, P., Mangelsdorf, M.E., Scheffer, I.E., Gécz, J. Brain Dev. (2002) [Pubmed]
  4. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Kato, M., Das, S., Petras, K., Kitamura, K., Morohashi, K., Abuelo, D.N., Barr, M., Bonneau, D., Brady, A.F., Carpenter, N.J., Cipero, K.L., Frisone, F., Fukuda, T., Guerrini, R., Iida, E., Itoh, M., Lewanda, A.F., Nanba, Y., Oka, A., Proud, V.K., Saugier-Veber, P., Schelley, S.L., Selicorni, A., Shaner, R., Silengo, M., Stewart, F., Sugiyama, N., Toyama, J., Toutain, A., Vargas, A.L., Yanazawa, M., Zackai, E.H., Dobyns, W.B. Hum. Mutat. (2004) [Pubmed]
  5. ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. Van Esch, H., Poirier, K., de Zegher, F., Holvoet, M., Bienvenu, T., Chelly, J., Devriendt, K., Fryns, J.P. Clin. Genet. (2004) [Pubmed]
  6. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Kato, M., Saitoh, S., Kamei, A., Shiraishi, H., Ueda, Y., Akasaka, M., Tohyama, J., Akasaka, N., Hayasaka, K. Am. J. Hum. Genet. (2007) [Pubmed]
  7. ARX: a gene for all seasons. Gécz, J., Cloosterman, D., Partington, M. Curr. Opin. Genet. Dev. (2006) [Pubmed]
  8. Changes in rapidly extracted auditory evoked potentials during tracheal intubation. Urhonen, E., Jensen, E.W., Lund, J. Acta anaesthesiologica Scandinavica. (2000) [Pubmed]
  9. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Kalscheuer, V.M., Freude, K., Musante, L., Jensen, L.R., Yntema, H.G., Gécz, J., Sefiani, A., Hoffmann, K., Moser, B., Haas, S., Gurok, U., Haesler, S., Aranda, B., Nshedjan, A., Tzschach, A., Hartmann, N., Roloff, T.C., Shoichet, S., Hagens, O., Tao, J., Van Bokhoven, H., Turner, G., Chelly, J., Moraine, C., Fryns, J.P., Nuber, U., Hoeltzenbein, M., Scharff, C., Scherthan, H., Lenzner, S., Hamel, B.C., Schweiger, S., Ropers, H.H. Nat. Genet. (2003) [Pubmed]
  10. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Kitamura, K., Yanazawa, M., Sugiyama, N., Miura, H., Iizuka-Kogo, A., Kusaka, M., Omichi, K., Suzuki, R., Kato-Fukui, Y., Kamiirisa, K., Matsuo, M., Kamijo, S., Kasahara, M., Yoshioka, H., Ogata, T., Fukuda, T., Kondo, I., Kato, M., Dobyns, W.B., Yokoyama, M., Morohashi, K. Nat. Genet. (2002) [Pubmed]
  11. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Meloni, I., Muscettola, M., Raynaud, M., Longo, I., Bruttini, M., Moizard, M.P., Gomot, M., Chelly, J., des Portes, V., Fryns, J.P., Ropers, H.H., Magi, B., Bellan, C., Volpi, N., Yntema, H.G., Lewis, S.E., Schaffer, J.E., Renieri, A. Nat. Genet. (2002) [Pubmed]
  12. A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. Nasrallah, I.M., Minarcik, J.C., Golden, J.A. J. Cell Biol. (2004) [Pubmed]
  13. Channelopathies as a genetic cause of epilepsy. Mulley, J.C., Scheffer, I.E., Petrou, S., Berkovic, S.F. Curr. Opin. Neurol. (2003) [Pubmed]
  14. X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX. Scheffer, I.E., Wallace, R.H., Phillips, F.L., Hewson, P., Reardon, K., Parasivam, G., Stromme, P., Berkovic, S.F., Gecz, J., Mulley, J.C. Neurology (2002) [Pubmed]
  15. Human ARX gene: genomic characterization and expression. Ohira, R., Zhang, Y.H., Guo, W., Dipple, K., Shih, S.L., Doerr, J., Huang, B.L., Fu, L.J., Abu-Khalil, A., Geschwind, D., McCabe, E.R. Mol. Genet. Metab. (2002) [Pubmed]
  16. ARX mutations in X-linked lissencephaly with abnormal genitalia. Uyanik, G., Aigner, L., Martin, P., Gross, C., Neumann, D., Marschner-Schäfer, H., Hehr, U., Winkler, J. Neurology (2003) [Pubmed]
  17. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Bienvenu, T., Poirier, K., Friocourt, G., Bahi, N., Beaumont, D., Fauchereau, F., Ben Jeema, L., Zemni, R., Vinet, M.C., Francis, F., Couvert, P., Gomot, M., Moraine, C., van Bokhoven, H., Kalscheuer, V., Frints, S., Gecz, J., Ohzaki, K., Chaabouni, H., Fryns, J.P., Desportes, V., Beldjord, C., Chelly, J. Hum. Mol. Genet. (2002) [Pubmed]
  18. Genetic malformations of cortical development. Guerrini, R., Marini, C. Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale. (2006) [Pubmed]
  19. A new paradigm for West syndrome based on molecular and cell biology. Kato, M. Epilepsy Res. (2006) [Pubmed]
  20. Cerebral state index during propofol anesthesia: a comparison with the bispectral index and the A-line ARX index. Jensen, E.W., Litvan, H., Revuelta, M., Rodriguez, B.E., Caminal, P., Martinez, P., Vereecke, H., Struys, M.M. Anesthesiology (2006) [Pubmed]
  21. Changes in consciousness, conceptual memory, and quantitative electroencephalographical measures during recovery from sevoflurane- and remifentanil-based anesthesia. Muncaster, A.R., Sleigh, J.W., Williams, M. Anesth. Analg. (2003) [Pubmed]
  22. A comparison of bispectral index and ARX-derived auditory evoked potential index in measuring the clinical interaction between ketamine and propofol anaesthesia. Vereecke, H.E., Struys, M.M., Mortier, E.P. Anaesthesia. (2003) [Pubmed]
  23. Is the ARX index a more sensitive indicator of anesthetic depth than the bispectral index during sevoflurane/nitrous oxide anesthesia? Nishiyama, T., Matsukawa, T., Hanaoka, K. Acta anaesthesiologica Scandinavica. (2004) [Pubmed]
  24. Propofol ensures a more stable A-line ARX index than thiopental during intubation. Hsu, J.C., Yang, C.Y., See, L.C., Liou, J.T., Liu, F.C., Hwang, J.J., Wu, W.C., Lui, P.W. Canadian journal of anaesthesia = Journal canadien d'anesthésie. (2005) [Pubmed]
  25. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Turner, G., Partington, M., Kerr, B., Mangelsdorf, M., Gecz, J. Am. J. Med. Genet. (2002) [Pubmed]
  26. X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations. Hirose, S., Mitsudome, A. Brain Dev. (2003) [Pubmed]
  27. Effect of sevoflurane on the mid-latency auditory evoked potentials measured by a new fast extracting monitor. Alpiger, S., Helbo-Hansen, H.S., Jensen, E.W. Acta anaesthesiologica Scandinavica. (2002) [Pubmed]
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