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.
Immunogen Information
Immunogen
Recombinant protein of human APTX
Swissprot
Q7Z2E3
Synonyms
AOA 1AOAAOA1AprataxinAprataxin homologAptxAPTXAtaxia 1 early onset with hypoalbuminemiaAtaxia1 early onset with hypoalbuminemiaAXA 1AXA1EAOHEOAHAFHA HITFHA-HITFLJ20157Forkhead associated domain histidine triad likeForkhead associated doma
Gene Accession
BC001628
Applications
Reactivity
Human,Mouse,Rat
Tested Applications
IHC,ELISA
Conjugation
Unconjugated
Dilution
IHC 1:50-1:200
Concentration
0.3 mg/mL
Storage Buffer
PBS with 0.05% sodium azide and 50% glycerol, PH7.4