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ataxin 7
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| Identifiers | |
| Symbol | ATXN7 |
| Alt. Symbols | SCA7 |
| Entrez | 6314 |
| HUGO | 10560 |
| OMIM | 607640 |
| RefSeq | NM_000333 |
| UniProt | O15265 |
| Other data | |
| Locus | Chr. 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
- MeSH ataxin-7
- 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:. 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: 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:. 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:. 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:. PMID 15115762.
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