| Popis: |
The aim of these studies was to establish the genetic basis of PRPP synthetase (PRS) superactivity, an X chromosome-linked disorder of purine metabolism characterized by gout, uric acid overproduction1, and, in some families, neurologic and/or developmental impairment2. PRPP, an allosteric activator and substrate in the pathway of purine nucleotide synthesis de novo, is synthesized from ATP and Rib-5-P in a reaction dependent on Pi and Mg2+ both as cofactors and activators. The reaction is inhibited by purine, pyrimidine, and pyridine nucleotide products of the pathways of PRPP utilization as well as AMP and PRPP, the products of the PRS reaction, and certain additional phosphorylated compounds3. |
