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FLASH GENE
Symbol ATXN2 contributors: mct/ - updated : 11-07-2017
HGNC name ataxin 2
HGNC id 10555
ASSOCIATED DISORDERS
corresponding disease(s) SCA2
Susceptibility to amyotrophic lateral sclerosis (ALS)
Variant & Polymorphism repeat , other
  • association between ataxin-2 and ALS
  • intermediate-length polyQ expansions (2733 glutamines) in ATXN2 were significantly associated with ALS , and expansion >30 in Europeans
  • Candidate gene
    Marker
    Therapy target
  • TARDBPATXN2 interaction may be a promising target for therapeutic intervention in ALS
  • ANIMAL & CELL MODELS
  • a drosophhila homolog acting as a dosage-sensitive regulator of actin filament formation
  • ATXN2 knockout (KO) mice show hypertrophy and insulin resistance