Ataxin 7 Explained
| ataxin 7 |
| Hgncid: | 10560 |
| Symbol: | ATXN7 |
| Altsymbols: | SCA7 |
| Entrezgene: | 6314 |
| Omim: | 607640 |
| Refseq: | NM_000333 |
| Uniprot: | O15265 |
| Chromosome: | 3 |
| Arm: | p |
| Band: | 21.1 |
| Locussupplementarydata: | -p12 |
Ataxin 7 (ATXN7) is a protein of the SCA7 gene, which contains 892 amino acids with an expandable poly(Q) region close to the N-terminus. The expandable poly(Q) motif region in the protein contributes crucially to spinocerebellar ataxia (SCA) pathogenesis by the induction of intranuclear inclusion bodies.[1] ATXN7 is associated with both olivopontocerebellar atrophy type 3 (OPCA3) and spinocerebellar ataxia type 7 (SCA7).
CAG repeat leads to pathological protein misfolding. In ataxin-7 gene has shown to cause cerebellar and brainstem degeneration as well as retinal conerod dystrophy. Polyglutamine (polyQ) expansion at the N-terminus of ataxin-7 causes protein aggregation, leading to the symptoms of ataxia with visual loss.[2]
Research suggest that silencing of ataxin-7 in the retina by RNAi can be a possible therapeutic strategy for patients with SCA7 retinal degeneration.[3]
Further reading
- Janer A, Martin E, Muriel MP, Latouche M, Fujigasaki H, Ruberg M, Brice A, Trottier Y, Sittler A . PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins . The Journal of Cell Biology . 174 . 1 . 65–76 . July 2006 . 16818720 . 2064165 . 10.1083/jcb.200511045 .
- Helmlinger D, Hardy S, Eberlin A, Devys D, Tora L . Both normal and polyglutamine- expanded ataxin-7 are components of TFTC-type GCN5 histone acetyltransferase- containing complexes . Biochemical Society Symposium . 73 . 73 . 155–163 . 2006 . 16626296 . 10.1042/bss0730155 .
- Wang HL, Yeh TH, Chou AH, Kuo YL, Luo LJ, He CY, Huang PC, Li AH . Polyglutamine-expanded ataxin-7 activates mitochondrial apoptotic pathway of cerebellar neurons by upregulating Bax and downregulating Bcl-x(L) . Cellular Signalling . 18 . 4 . 541–552 . April 2006 . 15964171 . 10.1016/j.cellsig.2005.05.024 .
- Ansorge O, Giunti P, Michalik A, Van Broeckhoven C, Harding B, Wood N, Scaravilli F . Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats . Annals of Neurology . 56 . 3 . 448–452 . September 2004 . 15349877 . 10.1002/ana.20230 . 8148133 .
- Helmlinger D, Hardy S, Sasorith S, Klein F, Robert F, Weber C, Miguet L, Potier N, Van-Dorsselaer A, Wurtz JM, Mandel JL, Tora L, Devys D . Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes . Human Molecular Genetics . 13 . 12 . 1257–1265 . June 2004 . 15115762 . 10.1093/hmg/ddh139 . free .
External links
Notes and References
- Scheel H, Tomiuk S, Hofmann K . Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics . Human Molecular Genetics . 12 . 21 . 2845–2852 . November 2003 . 12944423 . 10.1093/hmg/ddg297 . free .
- Book: The molecular and cellular basis of neurodegenerative diseases: underlying mechanisms. Wolfe MS . 18 April 2018. 978-0-12-811304-2. 1040033113. Wolfe . Michael S. . Elsevier Science .
- Ramachandran PS, Bhattarai S, Singh P, Boudreau RL, Thompson S, Laspada AR, Drack AV, Davidson BL . RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration . PLOS ONE . 9 . 4 . e95362 . 2014 . 24759684 . 3997397 . 10.1371/journal.pone.0095362 . free . 2014PLoSO...995362R .
