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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneATXN2
Other namesATX2; SCA2; TNRC13; FLJ46772; ATXN2
Gene nameataxin 2
Gene inheritance categorySALS genes
CategoryOXIDATIVE STRESS
Chromosome12q23-q24.1
Background(ATXN2), a polyglutamine (polyQ) protein mutated in spinocerebellar ataxia type 2, is a potent modifier of TDP-43 toxicity in animal and cellular models
Resultintermediate-length polyQ expansions (27–33 glutamines) in ATXN2 were significantly associated with ALS
Total Mutations1
Total Affected10

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KEY PUBLICATIONS (3)

First_AuthorYearTitlePaper
Elden2010Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALSFull_Paper
Lee2011Ataxin-2 intermediate-length polyglutamineFull_Paper
Van Damme2011Expanded ATXN2 CAG repeat size in ALSFull_Paper

GENETIC VARIATIONS

SNP (rs)BasepairpvalueAuthorYearTermPaper
   Elden2010GRCh37Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
  0.0062Lee2011GRCh37Ataxin-2 intermediate-length polyglutamine
  0.0006Van Damme2011GRCh37Expanded ATXN2 CAG repeat size in ALS
        
 
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