PRPS2

PRPS2 encodes phosphoribosyl pyrophosphate synthetase 2, also commonly known as PRPP synthetase 2. This protein plays a crucial role in nucleotide synthesis by catalyzing the formation of phosphoribosyl pyrophosphate (PRPP) from ribose-5-phosphate and ATP. It is involved in the purine and pyrimidine biosynthesis pathways, which are essential for DNA and RNA synthesis.
Mutations in PRPS2 are associated with X-linked non-syndromic sensorineural deafness and PRPP synthetase superactivity, leading to overproduction of uric acid and gout. Currently, research is ongoing to develop drugs that can precisely target PRPS2 to regulate nucleotide metabolism and potentially treat related disorders.