Canine, Equine, Guinea pig, Human, Mouse, Rabbit, Rat
Immunogen:
The immunogen is a synthetic peptide directed towards the N terminal region of human APTX
Alternative Names:
AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT
APTX is a member of the histidine triad (HIT) superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. APTX may play a role in single-stranded DNA repair. Mutations in this gene have been associated with ataxia-ocular apraxia.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.