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
- expressed in the brain, heart, liver, skeletal muscle, pancreas, placenta.
- isoform 1 is predominant in brain, spinal cord
- isoform 4 is more abundant in cerebellum
Pathology
- CAG repeat expansion in SCA2 gene encoding ataxin-2 in spinocerebellar ataxia type 2 CAG repeat -> poly-Gln of ATXN2 is polymorphic, 17-29 repeats in normal population 36-52 repeats in spinocerebellar ataxia 2
More general terms
References
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ Zoghbi HY The expanding world of ataxins. Nature Genet 14:237-8 1996 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8896544
- ↑ UniProt http://www.uniprot.org/uniprot/Q99700.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ATXN2