Aprataxin is a protein that in humans is encoded by the APTX gene. This gene encodes a member of the histidine triad (HIT) superfamily, some of which...

having A–T. It is caused by mutation in the gene coding for the protein aprataxin. Affected individuals differ from those with A–T by the early appearance...

and hypercholesterolemia. Mutations in the gene APTX, which encodes for aprataxin, have been identified to be responsible for AOA1. Elevated creatine kinase...

PMID 15136035. Gueven N, Becherel OJ, Kijas AW, et al. (May 2004). "Aprataxin, a novel protein that protects against genotoxic stress". Human Molecular...

oxidative stress. Mutant ALADIN also causes decreased nuclear import of aprataxin, a repair protein for DNA single-strand breaks, and DNA ligase I. These...

Ligase IV XRCC4 XLF Artemis DNA polymerase mu DNA polymerase lambda PNKP Aprataxin APLF BRCA1 BRCA2 CYREN Chou, Shih‐Jie; Yang, Peng; Ban, Qian; Yang, Yi‐Ping;...

excision repair), aprataxin (active in single-strand DNA repair and non-homologous end joining) and a third protein designated aprataxin- and PNKP-like factor...

intermediate incapable of being fixed without the aid of a phosphodiesterase. Aprataxin (a phosphodiesterase) has been shown to act on aborted DNA intermediates...

hypersensitivity to oxidative stress. The import of DNA repair proteins aprataxin and DNA ligase I is selectively decreased, and this may increase the vulnerability...

Becherel OJ, Kijas AW, Chen P, Howe O, Rudolph JH, et al. (May 2004). "Aprataxin, a novel protein that protects against genotoxic stress". Human Molecular...