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ATXN8 ataxin 8 [ Homo sapiens (human) ]

Gene ID: 724066, updated on 7-Sep-2023

Summary

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Official Symbol
ATXN8provided by HGNC
Official Full Name
ataxin 8provided by HGNC
Primary source
HGNC:HGNC:32925
See related
MIM:613289
Gene type
protein coding
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010]
Annotation information
not in current annotation release
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Genomic context

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Location:
13q21

Bibliography

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Related articles in PubMed

  1. Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family. Cintra VP, et al. Acta Neurol Scand, 2017 Nov. PMID 28229454
  2. ATXN8 -62 G/A promoter polymorphism and risk of Taiwanese Parkinson's disease. Chen IC, et al. Eur J Neurol, 2012 Nov. PMID 22577844
  3. Clinical and genetic features of spinocerebellar ataxia type 8. Ikeda Y, et al. Handb Clin Neurol, 2012. PMID 21827909
  4. CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. Perez BA, et al. EMBO Mol Med, 2021 Nov 8. PMID 34632710, Free PMC Article
  5. Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion. Koutsis G, et al. J Neurol, 2012 Sep. PMID 22297462

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CCG*CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.
    Title: CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.
  2. Three SNPs cosegregate with the expanded alleles and spinocerebellar ataxia type 8 in Brazilian family.
    Title: Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family.
  3. suggest that ATXN8 -62 G/A polymorphism plays a role in Taiwanese Parkinson's disease susceptibility
    Title: ATXN8 -62 G/A promoter polymorphism and risk of Taiwanese Parkinson's disease.
  4. This study identified only one patient with an SCA8 expansion in Greek patients with Huntington's disease.
    Title: Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion.
  5. The spinocerebellar ataxia type 8 is caused by Trinucleotide Repeat Expansion in ataxin 8 protein.
    Title: Clinical and genetic features of spinocerebellar ataxia type 8.
  6. Report a fluorescent PCR method for detection of expanded repeats in the ATXN8OS/ATXN8 gene in spinocerebellar ataxia type 8.
    Title: Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study.
  8. CUG-repeat expansion is toxic and affects ATXN8 RNA expression and stability through epigenetic and post-transcriptional. mechanisms.
    Title: Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci.
  9. expression of noncoding (CUG)n expansion transcripts (ataxin 8 opposite strand, ATXN8OS) and the discovery of intranuclear polyglutamine inclusions suggests SCA8 pathogenesis involves toxic gain-of-function mechanisms at both the protein and RNA levels
    Title: Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.
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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Associated conditions

Description Tests
Spinocerebellar ataxia type 8
MedGen: C1837454 OMIM: 608768 GeneReviews: Hereditary Ataxia Overview, Spinocerebellar Ataxia Type 8
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Variation

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See variants in ClinVar

General gene information

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Markers

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ataxin-8
Names
protein 1C2
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q156A1.1 GenPept UniProtKB/Swiss-Prot:Q156A1

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Chemical Information
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