ID   SETX-2RM
AC   CVCL_ZT67
DR   Wikidata; Q98132448
RX   PubMed=17347666;
RX   PubMed=17562789;
CC   Sequence variation: Mutation; HGNC; HGNC:445; SETX; Simple; c.7287+5G>A (IVS23+5G>A); Zygosity=Homozygous (PubMed=17562789).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C165500; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
DI   ORDO; Orphanet_64753; Spinocerebellar ataxia with axonal neuropathy type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Age unspecified
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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RX   PubMed=17347666; DOI=10.1038/sj.cdd.4402116;
RA   Gueven N., Becherel O.J., Howe O., Chen P.-J., Haince J.-F.,
RA   Ouellet M.-E., Poirier G.G., Waterhouse N., Fusser M., Epe B.,
RA   Menissier-de Murcia J., de Murcia G., McGowan C.H., Parton R.G.,
RA   Mothersill C., Grattan-Smith P.J., Lavin M.F.;
RT   "A novel form of ataxia oculomotor apraxia characterized by oxidative
RT   stress and apoptosis resistance.";
RL   Cell Death Differ. 14:1149-1161(2007).
//
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).
//