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FLASH GENE

Symbol

ATXN2

contributors: mct/ - updated : 11-07-2017

HGNC name	ataxin 2
HGNC id	10555

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 (27–33 glutamines) in ATXN2 were significantly associated with ALS , and expansion >30 in Europeans

Candidate gene
Marker
Therapy target	TARDBP–ATXN2 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