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FLASH GENE
Symbol APTX contributors: mct/pgu - updated : 26-11-2010
HGNC name aprataxin
HGNC id 15984
ASSOCIATED DISORDERS
corresponding disease(s) AOA1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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