- SETX
Senataxin, also known as SETX, is a human
gene .cite web | title = Entrez Gene: SETX senataxin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23064| accessdate = ]PBB_Summary
section_title =
summary_text = This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4).cite web | title = Entrez Gene: SETX senataxin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23064| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Chance PF, Rabin BA, Ryan SG, "et al." |title=Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. |journal=Am. J. Hum. Genet. |volume=62 |issue= 3 |pages= 633–40 |year= 1998 |pmid= 9497266 |doi=
*cite journal | author=Ishikawa K, Nagase T, Suyama M, "et al." |title=Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. |journal=DNA Res. |volume=5 |issue= 3 |pages= 169–76 |year= 1998 |pmid= 9734811 |doi=
*cite journal | author=Németh AH, Bochukova E, Dunne E, "et al." |title=Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. |journal=Am. J. Hum. Genet. |volume=67 |issue= 5 |pages= 1320–6 |year= 2000 |pmid= 11022012 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Moreira MC, Klur S, Watanabe M, "et al." |title=Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. |journal=Nat. Genet. |volume=36 |issue= 3 |pages= 225–7 |year= 2004 |pmid= 14770181 |doi= 10.1038/ng1303
*cite journal | author=Chen YZ, Bennett CL, Huynh HM, "et al." |title=DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). |journal=Am. J. Hum. Genet. |volume=74 |issue= 6 |pages= 1128–35 |year= 2004 |pmid= 15106121 |doi= 10.1086/421054
*cite journal | author=Humphray SJ, Oliver K, Hunt AR, "et al." |title=DNA sequence and analysis of human chromosome 9. |journal=Nature |volume=429 |issue= 6990 |pages= 369–74 |year= 2004 |pmid= 15164053 |doi= 10.1038/nature02465
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Duquette A, Roddier K, McNabb-Baltar J, "et al." |title=Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. |journal=Ann. Neurol. |volume=57 |issue= 3 |pages= 408–14 |year= 2005 |pmid= 15732101 |doi= 10.1002/ana.20408
*cite journal | author=Asaka T, Yokoji H, Ito J, "et al." |title=Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. |journal=Neurology |volume=66 |issue= 10 |pages= 1580–1 |year= 2006 |pmid= 16717225 |doi= 10.1212/01.wnl.0000216135.59699.9b
*cite journal | author=Beausoleil SA, Villén J, Gerber SA, "et al." |title=A probability-based approach for high-throughput protein phosphorylation analysis and site localization. |journal=Nat. Biotechnol. |volume=24 |issue= 10 |pages= 1285–92 |year= 2006 |pmid= 16964243 |doi= 10.1038/nbt1240
*cite journal | author=Olsen JV, Blagoev B, Gnad F, "et al." |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026
*cite journal | author=Suraweera A, Becherel OJ, Chen P, "et al." |title=Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. |journal=J. Cell Biol. |volume=177 |issue= 6 |pages= 969–79 |year= 2007 |pmid= 17562789 |doi= 10.1083/jcb.200701042PBB_Controls
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