Gene Symbol: Aptx
Description: aprataxin
Alias: aprataxin, FHA-HIT, forkhead-associated domain histidine triad-like protein
Species: rat
Products:     Aptx

Top Publications

  1. Becherel O, Gueven N, Birrell G, Schreiber V, Suraweera A, Jakob B, et al. Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription. Hum Mol Genet. 2006;15:2239-49 pubmed
    ..in patients with the neurological disorder ataxia with oculomotor apraxia type 1 (AOA1), encodes a novel protein aprataxin. We describe here, the interaction and interdependence between aprataxin and several nucleolar proteins, ..
  2. Moreira M, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, et al. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet. 2001;29:189-93 pubmed
    ..This gene encodes a new, ubiquitously expressed protein that we named aprataxin. This protein is composed of three domains that share distant homology with the amino-terminal domain of ..
  3. Sano Y, Date H, Igarashi S, Onodera O, Oyake M, Takahashi T, et al. Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein. Ann Neurol. 2004;55:241-9 pubmed
    ..b>Aprataxin is mainly located in the nucleus, and, furthermore, the first nuclear localization signal located near the amino ..
  4. Gueven N, Becherel O, Kijas A, Chen P, Howe O, Rudolph J, et al. Aprataxin, a novel protein that protects against genotoxic stress. Hum Mol Genet. 2004;13:1081-93 pubmed
    ..The gene mutated in AOA1, APTX, is predicted to code for a protein called aprataxin that contains domains of homology with proteins involved in DNA damage signalling and repair...
  5. Kijas A, Harris J, Harris J, Lavin M. Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities. J Biol Chem. 2006;281:13939-48 pubmed
    ..apraxia type 1 (AOA1) is an early onset autosomal recessive spinocerebellar ataxia with a defect in the protein Aprataxin, implicated in the response of cells to DNA damage...
  6. Ahel I, Rass U, El Khamisy S, Katyal S, Clements P, McKinnon P, et al. The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates. Nature. 2006;443:713-6 pubmed
    Ataxia oculomotor apraxia-1 (AOA1) is a neurological disorder caused by mutations in the gene (APTX) encoding aprataxin. Aprataxin is a member of the histidine triad (HIT) family of nucleotide hydrolases and transferases, and ..
  7. Rass U, Ahel I, West S. Actions of aprataxin in multiple DNA repair pathways. J Biol Chem. 2007;282:9469-74 pubmed
    ..The product of Aptx is Aprataxin (Aptx), a DNA-binding protein that resolves abortive DNA ligation intermediates...
  8. Ferrarini M, Squintani G, Cavallaro T, Ferrari S, Rizzuto N, Fabrizi G. A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization. J Neurol Sci. 2007;260:219-24 pubmed
    ..AOA1 is associated with the aprataxin gene (APTX) encoding a protein involved in DNA repair...
  9. Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi K, Niijima K, Kaneko J, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. Neurology. 2002;59:590-5 pubmed
    ..been considered as the same clinical entity because of the recent identification of a common mutation in the aprataxin gene...

More Information


  1. Takahashi T, Tada M, Igarashi S, Koyama A, Date H, Yokoseki A, et al. Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends. Nucleic Acids Res. 2007;35:3797-809 pubmed
    b>Aprataxin is the causative gene product for early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), the clinical symptoms of which are predominantly neurological...
  2. Lieber M. The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway. Annu Rev Biochem. 2010;79:181-211 pubmed publisher
    ..Therefore, patients lacking normal NHEJ are not only sensitive to ionizing radiation (IR), but also severely immunodeficient. ..
  3. Becherel O, Jakob B, Cherry A, Gueven N, Fusser M, Kijas A, et al. CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response. Nucleic Acids Res. 2010;38:1489-503 pubmed publisher
    b>Aprataxin, defective in the neurodegenerative disorder ataxia oculomotor apraxia type 1, resolves abortive DNA ligation intermediates during DNA repair...
  4. Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S, et al. Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Neurogenetics. 2011;12:193-201 pubmed publisher
    ..with oculomotor apraxia type1 (AOA1, MIM 208920) is a rare autosomal recessive disease caused by mutations in the APTX gene. We screened a cohort of 204 patients with cerebellar ataxia and 52 patients with early-onset isolated chorea...