Structure-function Relationships in Human Hypoxanthine-guanine Phosphoribosyltransferase (HGPRT) by

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IntroductionHypoxanthine-guanine phosphoribosyltransferase ( HGPRT, EC 2.4.2.8 ) is a key enzyme of the purine salvage pathway, which allows recycling of purine bases into DNA and RNA. It is widely distributed in nature and has been studied both in prokaryotes and eukaryotes. In humans, a complete lack of HGPRT activity causes the Lesch-Nyhan syndrome, which is characterized by hyperuricaemia and neural disorders, including mental retardation and compulsive self-mutilation behavior[1].
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