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FLASH GENE

Symbol

ATXN1

contributors: mct /shn - updated : 13-12-2016

HGNC name	ataxin 1
HGNC id	10548

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SCA1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function partial loss of function of ATXN1 contributes to SCA1 pathogenesis (Crespo-Barreto 2010)

Susceptibility

Variant & Polymorphism other	increased number of CAG repeats in a subset of oligozoospermia patients (Lai 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS