Aprataxin

Aprataxin
Identifiers
Symbols	APTX ; AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT; FLJ20157; MGC1072
External IDs	Template:OMIM5 Template:MGI HomoloGene: 41634
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
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

Aprataxin, also known as APTX, is a human gene.

This gene encodes a member of the histidine triad (HIT) superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. The encoded protein may play a role in single-stranded DNA repair. Mutations in this gene have been associated with ataxia-ocular apraxia. Multiple transcript variants encoding distinct isoforms have been identified for this gene, however, the full length nature of some variants has not been determined.

Further reading

• Aicardi J, Barbosa C, Andermann E; et al. (1989). "Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia". Ann. Neurol. 24 (4): 497–502. doi:10.1002/ana.410240404. PMID 3239952.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gascon GG, Abdo N, Sigut D; et al. (1995). "Ataxia-oculomotor apraxia syndrome". J. Child Neurol. 10 (2): 118–22. PMID 7782601.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hannan MA, Sigut D, Waghray M, Gascon GG (1995). "Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families". J. Med. Genet. 31 (12): 953–6. PMID 7891378.CS1 maint: Multiple names: authors list (link)
• Moreira MC, Barbot C, Tachi N; et al. (2001). "Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity". Am. J. Hum. Genet. 68 (2): 501–8. PMID 11170899.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Date H, Onodera O, Tanaka H; et al. (2001). "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene". Nat. Genet. 29 (2): 184–8. doi:10.1038/ng1001-184. PMID 11586299.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Moreira MC, Barbot C, Tachi N; et al. (2001). "The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin". Nat. Genet. 29 (2): 189–93. doi:10.1038/ng1001-189. PMID 11586300.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Brenner C (2002). "Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases". Biochemistry. 41 (29): 9003–14. PMID 12119013.
• Shimazaki H, Takiyama Y, Sakoe K; et al. (2002). "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations". Neurology. 59 (4): 590–5. PMID 12196655.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)
• Tranchant C, Fleury M, Moreira MC; et al. (2004). "Phenotypic variability of aprataxin gene mutations". Neurology. 60 (5): 868–70. PMID 12629250.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Le Ber I, Moreira MC, Rivaud-Péchoux S; et al. (2003). "Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies". Brain. 126 (Pt 12): 2761–72. doi:10.1093/brain/awg283. PMID 14506070.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sekijima Y, Hashimoto T, Onodera O; et al. (2004). "Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation". Mov. Disord. 18 (10): 1198–200. doi:10.1002/mds.10526. PMID 14534929.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)
• Sano Y, Date H, Igarashi S; et al. (2004). "Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein". Ann. Neurol. 55 (2): 241–9. doi:10.1002/ana.10808. PMID 14755728.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gueven N, Becherel OJ, Kijas AW; et al. (2004). "Aprataxin, a novel protein that protects against genotoxic stress". Hum. Mol. Genet. 13 (10): 1081–93. doi:10.1093/hmg/ddh122. PMID 15044383.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)
• Habeck M, Zühlke C, Bentele KH; et al. (2004). "Aprataxin mutations are a rare cause of early onset ataxia in Germany". J. Neurol. 251 (5): 591–4. doi:10.1007/s00415-004-0374-7. PMID 15164193.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hirano M, Nishiwaki T, Kariya S; et al. (2004). "Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia". Neurosci. Lett. 366 (2): 120–5. doi:10.1016/j.neulet.2004.05.034. PMID 15276230.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Amouri R, Moreira MC, Zouari M; et al. (2005). "Aprataxin gene mutations in Tunisian families". Neurology. 63 (5): 928–9. PMID 15365154.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Clements PM, Breslin C, Deeks ED; et al. (2005). "The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4". DNA Repair (Amst.). 3 (11): 1493–502. doi:10.1016/j.dnarep.2004.06.017. PMID 15380105.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)