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. Multiple transcript variants encoding distinct isoforms have been identified for this gene, however, the full length nature of some variants has not been determined. (provided by RefSeq)
면역원
APTX (NP_778241.1, 69 a.a. ~ 166 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.