Ataxin 7

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ataxin 7
Identifiers
SymbolATXN7
Alt. symbolsSCA7
Entrez6314
HUGO10560
OMIM607640
RefSeqNM_000333
UniProtO15265
Other data
LocusChr. 3 p21.1-p12

Ataxin 7 is a protein associated with both olivopontocerebellar atrophy type 3 (OPCA3) and spinocerebellar ataxia type 7 (SCA7).

External links

  • GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 7
  • ataxin-7 at the US National Library of Medicine Medical Subject Headings (MeSH)
  • Online Mendelian Inheritance in Man (OMIM) 164500
  • Janer A, Martin E, Muriel M, Latouche M, Fujigasaki H, Ruberg M, Brice A, Trottier Y, Sittler A (2006). "PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins". J Cell Biol. 174 (1): 65–76. doi:10.1083/jcb.200511045. PMC 2064165. PMID 16818720.
  • Helmlinger D, Hardy S, Eberlin A, Devys D, Tora L (2006). "Both normal and polyglutamine- expanded ataxin-7 are components of TFTC-type GCN5 histone acetyltransferase- containing complexes". Biochem Soc Symp (73): 155–63. PMID 16626296.
  • Wang H, Yeh T, Chou A, Kuo Y, Luo L, He C, Huang P, Li A (2006). "Polyglutamine-expanded ataxin-7 activates mitochondrial apoptotic pathway of cerebellar neurons by upregulating Bax and downregulating Bcl-x(L)". Cell Signal. 18 (4): 541–52. doi:10.1016/j.cellsig.2005.05.024. PMID 15964171.
  • Ansorge O, Giunti P, Michalik A, Van Broeckhoven C, Harding B, Wood N, Scaravilli F (2004). "Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats". Ann Neurol. 56 (3): 448–52. doi:10.1002/ana.20230. PMID 15349877.
  • Helmlinger D, Hardy S, Sasorith S, Klein F, Robert F, Weber C, Miguet L, Potier N, Van-Dorsselaer A, Wurtz J, Mandel J, Tora L, Devys D (2004). "Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes". Hum Mol Genet. 13 (12): 1257–65. doi:10.1093/hmg/ddh139. PMID 15115762.



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