ⓘ Aprataxin

                                     

ⓘ Aprataxin

Aprataxin is a protein that in humans is encoded by the APTX gene.

This gene encodes a member of the histidine triad superfamily of hit, 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. Several variants of transcripts encoding different isoforms have been identified for this gene, however, for the full length nature of some variants has not been determined.