ID   SETX-1RM
AC   CVCL_ZT66
DR   Wikidata; Q98132447
RX   PubMed=17562789;
CC   Sequence variation: Mutation; HGNC; 445; SETX; Unexplicit; Ex14-21del; Zygosity=Homozygous (PubMed=17562789).
CC   Cell type: Fibroblast; CL=CL_0000057.
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   Finite cell line
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
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).
//