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Gene Review

SETX  -  senataxin

Homo sapiens

Synonyms: ALS4, AOA2, Amyotrophic lateral sclerosis 4 protein, KIAA0625, SCAR1, ...
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Disease relevance of SETX


High impact information on SETX

  • To identify the molecular basis of ALS4, we tested 19 genes within the ALS4 interval and detected missense mutations (T3I, L389S, and R2136H) in the Senataxin gene (SETX) [6].
  • An analysis of recombinant events identified D9S1831 and D9S164 as flanking markers, on chromosome 9q34, that define an approximately 5-cM interval that harbors the ALS4 gene [2].
  • Senataxin recently was identified as the mutated gene in ataxia-oculomotor apraxia 2, which is characterized by ataxia, oculomotor apraxia, and increased alpha-fetoprotein levels [7].
  • These data suggest that ALS4 and distal hereditary motor neuronopathy with pyramidal tract signs may be one and the same disorder [5].
  • Genetic linkage studies mapped the disease locus to chromosome 9q34 (ALS4) [5].

Chemical compound and disease context of SETX

  • METHODS: Scar volume was quantified using a validated three-dimensional speckle-pattern stereophotogrammetry before and for a minimum of 8 weeks after intralesional steroid therapy in 12 patients with keloid scars [8].

Biological context of SETX

  • The study of this large French-Canadian cohort better defines the phenotype of this ataxia and presents two novel mutations in senataxin including the more common founder mutation in the French-Canadian population [7].
  • These studies define autosomal dominant juvenile ALS linked to the chromosome 9q34 region (ALS4) and extend the clinical, pathological and genetic heterogeneity of familial ALS and juvenile ALS [9].

Anatomical context of SETX

  • In murine brain, SETX concentrates in several regions, including cerebellum, hippocampus and olfactory bulb with a general neuronal expression profile, colocalizing with NeuN [10].
  • In cultured cells, we found that SETX was cytoplasmically diffuse, but in the nucleus, SETX was punctate, colocalizing with fibrillarin, a marker of the nucleolus [10].
  • Negative or weakened signals for ALS4 expression were observed at early time points, suggesting that ALS4 expression, which was strong in the inoculum cells, was down-regulated upon contact of C. albicans with vaginal epithelial cells in this model [11].
  • Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease [10].
  • Loss of Als4p slowed germ tube formation of cells grown in RPMI 1640 medium and resulted in decreased adhesion of C. albicans to vascular endothelial cells [12].

Analytical, diagnostic and therapeutic context of SETX


  1. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Moreira, M.C., Klur, S., Watanabe, M., Németh, A.H., Le Ber, I., Moniz, J.C., Tranchant, C., Aubourg, P., Tazir, M., Schöls, L., Pandolfo, M., Schulz, J.B., Pouget, J., Calvas, P., Shizuka-Ikeda, M., Shoji, M., Tanaka, M., Izatt, L., Shaw, C.E., M'Zahem, A., Dunne, E., Bomont, P., Benhassine, T., Bouslam, N., Stevanin, G., Brice, A., Guimarães, J., Mendonça, P., Barbot, C., Coutinho, P., Sequeiros, J., Dürr, A., Warter, J.M., Koenig, M. Nat. Genet. (2004) [Pubmed]
  2. Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Chance, P.F., Rabin, B.A., Ryan, S.G., Ding, Y., Scavina, M., Crain, B., Griffin, J.W., Cornblath, D.R. Am. J. Hum. Genet. (1998) [Pubmed]
  3. Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. Asaka, T., Yokoji, H., Ito, J., Yamaguchi, K., Matsushima, A. Neurology (2006) [Pubmed]
  4. Atypical presentation of ataxia-oculomotor apraxia type 1. Shahwan, A., Byrd, P.J., Taylor, A.M., Nestor, T., Ryan, S., King, M.D. Developmental medicine and child neurology. (2006) [Pubmed]
  5. Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? De Jonghe, P., Auer-Grumbach, M., Irobi, J., Wagner, K., Plecko, B., Kennerson, M., Zhu, D., De Vriendt, E., Van Gerwen, V., Nicholson, G., Hartung, H.P., Timmerman, V. Brain (2002) [Pubmed]
  6. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Chen, Y.Z., Bennett, C.L., Huynh, H.M., Blair, I.P., Puls, I., Irobi, J., Dierick, I., Abel, A., Kennerson, M.L., Rabin, B.A., Nicholson, G.A., Auer-Grumbach, M., Wagner, K., De Jonghe, P., Griffin, J.W., Fischbeck, K.H., Timmerman, V., Cornblath, D.R., Chance, P.F. Am. J. Hum. Genet. (2004) [Pubmed]
  7. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Duquette, A., Roddier, K., McNabb-Baltar, J., Gosselin, I., St-Denis, A., Dicaire, M.J., Loisel, L., Labuda, D., Marchand, L., Mathieu, J., Bouchard, J.P., Brais, B. Ann. Neurol. (2005) [Pubmed]
  8. Objective assessment of keloid scars with three-dimensional imaging: quantifying response to intralesional steroid therapy. Ardehali, B., Nouraei, S.A., Van Dam, H., Dex, E., Wood, S., Nduka, C. Plast. Reconstr. Surg. (2007) [Pubmed]
  9. Autosomal dominant juvenile amyotrophic lateral sclerosis. Rabin, B.A., Griffin, J.W., Crain, B.J., Scavina, M., Chance, P.F., Cornblath, D.R. Brain (1999) [Pubmed]
  10. Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease. Chen, Y.Z., Hashemi, S.H., Anderson, S.K., Huang, Y., Moreira, M.C., Lynch, D.R., Glass, I.A., Chance, P.F., Bennett, C.L. Neurobiol. Dis. (2006) [Pubmed]
  11. Comparison between Candida albicans agglutinin-like sequence gene expression patterns in human clinical specimens and models of vaginal candidiasis. Cheng, G., Wozniak, K., Wallig, M.A., Fidel, P.L., Trupin, S.R., Hoyer, L.L. Infect. Immun. (2005) [Pubmed]
  12. Analysis of the Candida albicans Als2p and Als4p adhesins suggests the potential for compensatory function within the Als family. Zhao, X., Oh, S.H., Yeater, K.M., Hoyer, L.L. Microbiology (Reading, Engl.) (2005) [Pubmed]
  13. Reliability and validity testing of the Patient and Observer Scar Assessment Scale in evaluating linear scars after breast cancer surgery. Truong, P.T., Lee, J.C., Soer, B., Gaul, C.A., Olivotto, I.A. Plast. Reconstr. Surg. (2007) [Pubmed]
  14. Reconstructive surgery with Integra dermal regeneration template: histologic study, clinical evaluation, and current practice. Moiemen, N.S., Vlachou, E., Staiano, J.J., Thawy, Y., Frame, J.D. Plast. Reconstr. Surg. (2006) [Pubmed]
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