• Mutation; HGNC; HGNC:15984; APTX; Simple; p.Trp279Ter (c.837G>A); ClinVar=VCV000004431; Zygosity=Homozygous (PubMed=15380105).
  

PubMed=15380105; DOI=10.1016/j.dnarep.2004.06.017
Clements P.M., Breslin C., Deeks E.D., Byrd P.J., Ju L.-M., Bieganowski P., Brenner C., Moreira M.-C., Taylor A.M.R., Caldecott K.W.
The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4.
DNA Repair 3:1493-1502(2004)

PubMed=19303373; DOI=10.1016/j.dnarep.2009.02.002; PMCID=PMC2693503
El-Khamisy S.F., Katyal S., Patel P., Ju L.-M., McKinnon P.J., Caldecott K.W.
Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin.
DNA Repair 8:760-766(2009)

PubMed=19643912; DOI=10.1093/hmg/ddp359
Harris J.L., Jakob B., Taucher-Scholz G., Dianov G.L., Becherel O.J., Lavin M.F.
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.
Hum. Mol. Genet. 18:4102-4117(2009)