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Gene Review

ATXN7  -  ataxin 7

Homo sapiens

Synonyms: ADCAII, Ataxin-7, OPCA3, SCA7, Spinocerebellar ataxia type 7 protein
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Disease relevance of ATXN7


Psychiatry related information on ATXN7


High impact information on ATXN7

  • We have used this technique to clone the pathogenic SCA7 CAG expansion from an archived DNA sample of an individual affected with ataxia and retinal degeneration [6].
  • By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expanded in SCA7 patients [8].
  • The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3p12-13 [8].
  • Studies on the effect of mutant ataxin-7 on STAGA function suggest that chromatin remodeling and transcriptional alterations are key pathologic events in SCA type 7 [9].
  • Inversely, disruption of the endogenous nuclear bodies with cadmium increases the nuclear accumulation and aggregation of mutant ataxin-7, demonstrating their role in ataxin-7 turnover [10].

Biological context of ATXN7

  • We used a two-hybrid approach to screen a human retina cDNA library for ataxin-7-binding proteins, and isolated R85, a splice variant of Cbl-associated protein (CAP) [2].
  • Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics [11].
  • For ataxin-7, the gene product of the SCA7 gene, we have identified an orthology relationship to the yeast open reading frame Ygl066c [11].
  • This neurodegeneration disease is associated with expansion of unstable CAG repeats within the 5'-translated region of the SCA7 gene, located on chromosome 3p [12].
  • The phenotype in this family with SCA7 is that of a cone-rod dystrophy [13].

Anatomical context of ATXN7


Associations of ATXN7 with chemical compounds


Co-localisations of ATXN7


Regulatory relationships of ATXN7


Other interactions of ATXN7


Analytical, diagnostic and therapeutic context of ATXN7


  1. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. La Spada, A.R., Fu, Y.H., Sopher, B.L., Libby, R.T., Wang, X., Li, L.Y., Einum, D.D., Huang, J., Possin, D.E., Smith, A.C., Martinez, R.A., Koszdin, K.L., Treuting, P.M., Ware, C.B., Hurley, J.B., Ptácek, L.J., Chen, S. Neuron (2001) [Pubmed]
  2. Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions. Lebre, A.S., Jamot, L., Takahashi, J., Spassky, N., Leprince, C., Ravisé, N., Zander, C., Fujigasaki, H., Kussel-Andermann, P., Duyckaerts, C., Camonis, J.H., Brice, A. Hum. Mol. Genet. (2001) [Pubmed]
  3. A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. Jardim, L.B., Silveira, I., Pereira, M.L., Ferro, A., Alonso, I., do Céu Moreira, M., Mendonça, P., Ferreirinha, F., Sequeiros, J., Giugliani, R. J. Neurol. (2001) [Pubmed]
  4. Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. Holmberg, M., Duyckaerts, C., Dürr, A., Cancel, G., Gourfinkel-An, I., Damier, P., Faucheux, B., Trottier, Y., Hirsch, E.C., Agid, Y., Brice, A. Hum. Mol. Genet. (1998) [Pubmed]
  5. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Benton, C.S., de Silva, R., Rutledge, S.L., Bohlega, S., Ashizawa, T., Zoghbi, H.Y. Neurology (1998) [Pubmed]
  6. Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Koob, M.D., Benzow, K.A., Bird, T.D., Day, J.W., Moseley, M.L., Ranum, L.P. Nat. Genet. (1998) [Pubmed]
  7. Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice. Helmlinger, D., Yvert, G., Picaud, S., Merienne, K., Sahel, J., Mandel, J.L., Devys, D. Hum. Mol. Genet. (2002) [Pubmed]
  8. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. David, G., Abbas, N., Stevanin, G., Dürr, A., Yvert, G., Cancel, G., Weber, C., Imbert, G., Saudou, F., Antoniou, E., Drabkin, H., Gemmill, R., Giunti, P., Benomar, A., Wood, N., Ruberg, M., Agid, Y., Mandel, J.L., Brice, A. Nat. Genet. (1997) [Pubmed]
  9. Transcriptional alterations and chromatin remodeling in polyglutamine diseases. Helmlinger, D., Tora, L., Devys, D. Trends Genet. (2006) [Pubmed]
  10. PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins. Janer, A., Martin, E., Muriel, M.P., Latouche, M., Fujigasaki, H., Ruberg, M., Brice, A., Trottier, Y., Sittler, A. J. Cell Biol. (2006) [Pubmed]
  11. Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics. Scheel, H., Tomiuk, S., Hofmann, K. Hum. Mol. Genet. (2003) [Pubmed]
  12. Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot. Hsieh, M., Lin, S.J., Chen, J.F., Lin, H.M., Hsiao, K.M., Li, S.Y., Li, C., Tsai, C.J. J. Neurol. (2000) [Pubmed]
  13. Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. Aleman, T.S., Cideciyan, A.V., Volpe, N.J., Stevanin, G., Brice, A., Jacobson, S.G. Exp. Eye Res. (2002) [Pubmed]
  14. An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Lindblad, K., Savontaus, M.L., Stevanin, G., Holmberg, M., Digre, K., Zander, C., Ehrsson, H., David, G., Benomar, A., Nikoskelainen, E., Trottier, Y., Holmgren, G., Ptacek, L.J., Anttinen, A., Brice, A., Schalling, M. Genome Res. (1996) [Pubmed]
  15. Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7. Kaytor, M.D., Duvick, L.A., Skinner, P.J., Koob, M.D., Ranum, L.P., Orr, H.T. Hum. Mol. Genet. (1999) [Pubmed]
  16. A role for both wild-type and expanded ataxin-7 in transcriptional regulation. Ström, A.L., Forsgren, L., Holmberg, M. Neurobiol. Dis. (2005) [Pubmed]
  17. Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Mao, R., Aylsworth, A.S., Potter, N., Wilson, W.G., Breningstall, G., Wick, M.J., Babovic-Vuksanovic, D., Nance, M., Patterson, M.C., Gomez, C.M., Snow, K. Am. J. Med. Genet. (2002) [Pubmed]
  18. Qs in the nucleus. Orr, H.T. Neuron (2001) [Pubmed]
  19. Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. Matilla, A., Gorbea, C., Einum, D.D., Townsend, J., Michalik, A., van Broeckhoven, C., Jensen, C.C., Murphy, K.J., Ptácek, L.J., Fu, Y.H. Hum. Mol. Genet. (2001) [Pubmed]
  20. Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India. Basu, P., Chattopadhyay, B., Gangopadhaya, P.K., Mukherjee, S.C., Sinha, K.K., Das, S.K., Roychoudhury, S., Majumder, P.P., Bhattacharyya, N.P. Hum. Genet. (2000) [Pubmed]
  21. The pathogenesis of spinocerebellar ataxia. Koeppen, A.H. Cerebellum (2005) [Pubmed]
  22. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Del-Favero, J., Krols, L., Michalik, A., Theuns, J., Löfgren, A., Goossens, D., Wehnert, A., Van den Bossche, D., Van Zand, K., Backhovens, H., van Regenmorter, N., Martin, J.J., Van Broeckhoven, C. Hum. Mol. Genet. (1998) [Pubmed]
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