Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1.

@article{Welin2010StructuralAF,
  title={Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1.},
  author={Martin Welin and Louise Egeblad and Andr{\'e}as Johansson and P{\aa}l Stenmark and Liya Wang and Susanne Flodin and Tomas Nyman and Lionel Tr{\'e}saugues and Tetyana Kotenyova and Ida Johansson and Staffan Eriksson and Hans Ragnar Eklund and Paer Nordlund},
  journal={The FEBS journal},
  year={2010},
  volume={277 23},
  pages={
          4920-30
        }
}
Human hypoxanthine-guanine phosphoribosyltransferase (HPRT) (EC 2.4.2.8) catalyzes the conversion of hypoxanthine and guanine to their respective nucleoside monophosphates. Human HPRT deficiency as a result of genetic mutations is linked to both Lesch-Nyhan disease and gout. In the present study, we have characterized phosphoribosyltransferase domain containing protein 1 (PRTFDC1), a human HPRT homolog of unknown function. The PRTFDC1 structure has been determined at 1.7 Å resolution with bound… CONTINUE READING
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