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FLASH GENE
Symbol ATXN3 contributors: mct/pgu - updated : 27-06-2018
HGNC name ataxin 3
HGNC id 7106
ASSOCIATED DISORDERS
corresponding disease(s) MJD
Susceptibility
Variant & Polymorphism other no evidence for an instability predisposing haplotype due to the stretch of polyglutamine
Candidate gene for therapeutic by ribosome-interacting drugs (to fight the toxicity of polyalanine-frameshifted peptides)
Marker
Therapy target
SystemTypeDisorderPubmed
neurologyataxia 
potential therapeutic role of ataxin-3 activity for polyglutamine disorders
neurologyataxia 
target for therapeutic by ribosome-interacting drugs (to fight the toxicity of polyalanine-frameshifted peptides)
cancer  
targeting ATXN3 may be a promising strategy to radio-sensitise BRCA-deficient cancers
ANIMAL & CELL MODELS