ataxin-2; spinocerebellar ataxia type 2 protein; trinucleotide repeat-containing gene 13 protein (ATXN2, ATX2, SCA2, TNRC13)

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Function

  • protein of unknown function.

Alternative splicing

named isoforms=4

Expression

Pathology

More general terms

References

  1. Pulst SM et al Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet 14:269-76 1996 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8896555
  2. Sanpei K et al Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet 14:277-84 1996 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8896556
  3. Imbert G et al Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet 14:285-91 1996 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8896557
  4. Zoghbi HY The expanding world of ataxins. Nature Genet 14:237-8 1996 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8896544
  5. UniProt http://www.uniprot.org/uniprot/Q99700.html
  6. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ATXN2

Database