SETX

Senataxin
Identifiers
Symbols	SETX ; SCAR1; ALS4; AOA2; DKFZp781B151; FLJ12840; FLJ43459; KIAA0625; bA479K20.2
External IDs	Template:OMIM5 Template:MGI HomoloGene: 41003
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
File:PBB GE SETX 201964 at tn.png
File:PBB GE SETX 201965 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Senataxin, also known as SETX, is a human gene.

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).

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chance PF, Rabin BA, Ryan SG; et al. (1998). "Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34". Am. J. Hum. Genet. 62 (3): 633–40. PMID 9497266.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ishikawa K, Nagase T, Suyama M; et al. (1998). "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". DNA Res. 5 (3): 169–76. PMID 9734811.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Németh AH, Bochukova E, Dunne E; et al. (2000). "Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34". Am. J. Hum. Genet. 67 (5): 1320–6. PMID 11022012.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Moreira MC, Klur S, Watanabe M; et al. (2004). "Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2". Nat. Genet. 36 (3): 225–7. doi:10.1038/ng1303. PMID 14770181.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chen YZ, Bennett CL, Huynh HM; et al. (2004). "DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)". Am. J. Hum. Genet. 74 (6): 1128–35. doi:10.1086/421054. PMID 15106121.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Humphray SJ, Oliver K, Hunt AR; et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. doi:10.1038/nature02465. PMID 15164053.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Duquette A, Roddier K, McNabb-Baltar J; et al. (2005). "Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy". Ann. Neurol. 57 (3): 408–14. doi:10.1002/ana.20408. PMID 15732101.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Asaka T, Yokoji H, Ito J; et al. (2006). "Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX". Neurology. 66 (10): 1580–1. doi:10.1212/01.wnl.0000216135.59699.9b. PMID 16717225.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Beausoleil SA, Villén J, Gerber SA; et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Olsen JV, Blagoev B, Gnad F; et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Suraweera A, Becherel OJ, Chen P; et al. (2007). "Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage". J. Cell Biol. 177 (6): 969–79. doi:10.1083/jcb.200701042. PMID 17562789.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)