This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.
APTX; aprataxin; ataxia 1, early onset with hypoalbuminemia , AXA1; AOA; AOA1; EAOH; EOAHA; FLJ20157; AOA 1; Aprataxin homolog; Ataxia 1 early onset with hypoalbuminemia; Ataxia1 early onset with hypoalbuminemia; AXA 1; AXA1; FHA HIT; Forkhead associated domain histidine triad like; Forkhead associated domain histidine triad like protein; MGC1072; forkhead-associated domain histidine triad-like protein; FHA-HIT; AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT, MGC1072, FLJ20157, APTX