ATXN8 (ataxin 8)

2014-11-01  

Identity

HGNC
ATXN8
LOCATION
13q21
LOCUSID
724066
ALIAS
-

Other Information

Locus ID:

NCBI: 724066
MIM: 613289
HGNC: 32925

Variants:

dbSNP: 724066
ClinVar: 724066
COSMIC: ATXN8

References

Pubmed IDYearTitleCitations
346327102021CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.9
346327102021CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.9
282294542017Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family.3
282294542017Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family.3
218279092012Clinical and genetic features of spinocerebellar ataxia type 8.5
222974622012Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion.9
225778442012ATXN8 -62 G/A promoter polymorphism and risk of Taiwanese Parkinson's disease.2
218279092012Clinical and genetic features of spinocerebellar ataxia type 8.5
222974622012Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion.9
225778442012ATXN8 -62 G/A promoter polymorphism and risk of Taiwanese Parkinson's disease.2
220537022011Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay.2
220537022011Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay.2
192033952009Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci.15
192295592009SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications.2
192597632009The 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)