ATXN8 (ataxin 8)

2014-11-01  

Identity

HGNC
LOCATION
13q21
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 724066
MIM: 613289
HGNC: 32925

Variants:

dbSNP: 724066
ClinVar: 724066
COSMIC: ATXN8

References

Pubmed IDYearTitleCitations
192597632009The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study.7
192295592009SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications.2
168045412006Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.0
192033952009Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci.0
218279092012Clinical and genetic features of spinocerebellar ataxia type 8.0
220537022011Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay.0
222974622012Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion.0
225778442012ATXN8 -62 G/A promoter polymorphism and risk of Taiwanese Parkinson's disease.0
282294542017Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family.0

Citation

Dessen P

ATXN8 (ataxin 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60662/atxn8