• Mutation; HGNC; HGNC:15984; APTX; Simple; p.Pro206Leu (c.617C>T); ClinVar=VCV000004426; Zygosity=Heterozygous (PubMed=15044383).
  
• Mutation; HGNC; HGNC:15984; APTX; Simple; p.Val263Gly (c.788T>G); ClinVar=VCV000004428; Zygosity=Heterozygous (PubMed=15044383).
  

PubMed=15044383; DOI=10.1093/hmg/ddh122
Nuri Gueven, Olivier J. Becherel, Amanda W. Kijas, Philip Chen, Orla Howe, Jeanette H. Rudolph, Richard A. Gatti, Hidetoshi Date, Osamu Onodera, Gisela Taucher-Scholz, Martin Francis Lavin;
Aprataxin, a novel protein that protects against genotoxic stress.
Hum. Mol. Genet. 13:1081-1093(2004)

PubMed=17562789; DOI=10.1083/jcb.200701042; PMCID=PMC2064358
Amila Suraweera, Olivier J. Becherel, Philip Chen, Natalie Rundle, Robert Woods, Jun Nakamura, Magtouf Gatei, Chiara Criscuolo, Alessandro Filla, Luciana Chessa, Markus Fusser ...Show all 14 authors... , Bernd Epe, Nuri Gueven, Martin Francis Lavin; Show fewer authors
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.
J. Cell Biol. 177:969-979(2007)

PubMed=19643912; DOI=10.1093/hmg/ddp359
Janelle Louise Harris, Burkhard Jakob, Gisela Taucher-Scholz, Grigory L. Dianov, Olivier J. Becherel, Martin Francis Lavin;
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)