Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 724066
MIM: 613289
HGNC: 32925
Variants:
dbSNP: 724066
ClinVar: 724066
COSMIC: ATXN8
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34632710 | 2021 | CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. | 9 |
| 34632710 | 2021 | CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. | 9 |
| 28229454 | 2017 | Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family. | 3 |
| 28229454 | 2017 | Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family. | 3 |
| 21827909 | 2012 | Clinical and genetic features of spinocerebellar ataxia type 8. | 5 |
| 22297462 | 2012 | Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion. | 9 |
| 22577844 | 2012 | ATXN8 -62 G/A promoter polymorphism and risk of Taiwanese Parkinson's disease. | 2 |
| 21827909 | 2012 | Clinical and genetic features of spinocerebellar ataxia type 8. | 5 |
| 22297462 | 2012 | Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion. | 9 |
| 22577844 | 2012 | ATXN8 -62 G/A promoter polymorphism and risk of Taiwanese Parkinson's disease. | 2 |
| 22053702 | 2011 | Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay. | 2 |
| 22053702 | 2011 | Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay. | 2 |
| 19203395 | 2009 | Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci. | 15 |
| 19229559 | 2009 | SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications. | 2 |
| 19259763 | 2009 | The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study. | 12 |
Citation
Dessen P
ATXN8 (ataxin 8)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60662/atxn8-(ataxin-8)
