Tags: Protein.
Aprataxin is a protein that in humans is encoded by the APTX gene.This gene encodes a member of the histidine triad (HIT) superfamily some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. The encoded protein may play a role in single-stranded DNA repair. Mutations in this gene have been associated with ataxia-ocular apraxia.