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FLASH GENE

Symbol

APTX

contributors: mct/pgu - updated : 26-11-2010

HGNC name	aprataxin
HGNC id	15984

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AOA1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   result in mitochondrial dysfunction and an accumulation of mtDNA damage

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

aprataxin resolves abortive DNA ligation intermediates in Aptrx-/- mouse primary neural cells