Ribose-phosphate diphosphokinase

The ribose-phosphate Diphosphokinase (PRS -1) (former - Pyrophosphokinase ) is the enzyme which catalyzes the synthesis of PRPP from ribose -5-phosphate catalyzed in all living beings. This reaction is the basis for the biosynthesis of all nucleotides. In man there are two isoforms of PRS - 1 is known. Mutations in PRPS1 gene can lead to over- activity of the enzyme, and to an increased hereditary risk for gout. Other PRPS1 mutations reduce enzyme activity and are the cause of the so-called Rosenberg Chutorian syndrome and a form of deafness (ARTS ).

Catalyzed reaction

ATP AMP ⇔

α -D -ribose -5-phosphate is converted to α -D -5- phosphoribosyl- 1-pyrophosphate.

Human Genome Organisation Ribose 5-phosphate Protein isoform
681047
de