ID   L939
AC   CVCL_ZT78
DR   Wikidata; Q98126843
RX   PubMed=15044383;
RX   PubMed=17562789;
RX   PubMed=19643912;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 15984; APTX; Simple; p.Pro206Leu (c.617C>T); ClinVar=VCV000004426; Zygosity=Heterozygous (PubMed=15044383).
CC   Sequence variation: Mutation; HGNC; 15984; APTX; Simple; p.Val263Gly (c.788T>G); ClinVar=VCV000004428; Zygosity=Heterozygous (PubMed=15044383).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C173401; Ataxia-oculomotor apraxia type 1
DI   ORDO; Orphanet_1168; Ataxia-oculomotor apraxia type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 10-09-24; Version: 7
//
RX   PubMed=15044383; DOI=10.1093/hmg/ddh122;
RA   Gueven N., Becherel O.J., Kijas A.W., Chen P., Howe O., Rudolph J.H.,
RA   Gatti R.A., Date H., Onodera O., Taucher-Scholz G., Lavin M.F.;
RT   "Aprataxin, a novel protein that protects against genotoxic stress.";
RL   Hum. Mol. Genet. 13:1081-1093(2004).
//
RX   PubMed=17562789; DOI=10.1083/jcb.200701042; PMCID=PMC2064358;
RA   Suraweera A., Becherel O.J., Chen P., Rundle N., Woods R.,
RA   Nakamura J., Gatei M., Criscuolo C., Filla A., Chessa L., Fusser M.,
RA   Epe B., Gueven N., Lavin M.F.;
RT   "Senataxin, defective in ataxia oculomotor apraxia type 2, is involved
RT   in the defense against oxidative DNA damage.";
RL   J. Cell Biol. 177:969-979(2007).
//
RX   PubMed=19643912; DOI=10.1093/hmg/ddp359;
RA   Harris J.L., Jakob B., Taucher-Scholz G., Dianov G.L., Becherel O.J.,
RA   Lavin M.F.;
RT   "Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic
RT   endonuclease 1 (APE1) function together to protect the genome against
RT   oxidative damage.";
RL   Hum. Mol. Genet. 18:4102-4117(2009).
//