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Literature summary for 3.6.1.71 extracted from

  • Moreira, M.C.; Barbot, C.; Tachi, N.; Kozuka, N.; Uchida, E.; Gibson, T.; Mendonca, P.; Costa, M.; Barros, J.; Yanagisawa, T.; Watanabe, M.; Ikeda, Y.; Aoki, M.; Nagata, T.; Coutinho, P.; Sequeiros, J.; Koenig, M.
    The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin (2001), Nat. Genet., 29, 189-193.
    View publication on PubMed
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Application

Application Comment Organism
medicine mutations in aprataxin cause ataxia-ocular apraxia 1, leading to early onset ataxia, oculomotor apraxia and cerebellar atrophy as well as axonal motor neuropathy and the later decrease of serum albumin levels and elevation of total cholesterol Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
nucleus
-
 Homo sapiens 5634
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Organism

Organism UniProt Comment Textmining
Homo sapiens Q7Z2E3
-
-

Source Tissue

Source Tissue Comment Organism Textmining
additional information aprataxin is ubiquitously expressed Homo sapiens
-

General Information

General Information Comment Organism
physiological function the protein is composed of three domains that share distant homology with the amino-terminal domain of polynucleotide kinase 3'-phosphatase, with histidine-triad proteins and with DNA-binding C2H2 zinc-finger proteins, respectively Homo sapiens