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Literature summary for 3.6.1.70 extracted from

  • Sykora, P.; Croteau, D.L.; Bohr, V.A.; Wilson, D.M.
    Aprataxin localizes to mitochondria and preserves mitochondrial function (2011), Proc. Natl. Acad. Sci. USA, 108, 7437-7442 .
    View publication on PubMedView publication on EuropePMC

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion isoforms carrying a 42-nt N-terminal mitochondrial targeting sequence are localized to mitochondria Homo sapiens 5739
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Organism

Organism UniProt Comment Textmining
Homo sapiens Q7Z2E3
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Source Tissue

Source Tissue Comment Organism Textmining
brain
-
Homo sapiens
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cerebellum
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Homo sapiens
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myoblast primary skeletal muscle myoblast Homo sapiens
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SH-SY5Y cell
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Homo sapiens
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Subunits

Subunits Comment Organism
? x * 40000, SDS-PAGE Homo sapiens

General Information

General Information Comment Organism
physiological function depletion of aprataxin in human SHSY5Y neuroblastoma cells and primary skeletal muscle myoblasts results in mitochondrial dysfunction, revealed by reduced citrate synthase activity and mtDNA copy number. mtDNA, not nuclear DNA, has higher levels of background DNA damage on aprataxin knockdown Homo sapiens