Contributes to ribose phosphate diphosphokinase activity. Involved in 5-phosphoribose 1-diphosphate biosynthetic process. Located in cytoplasm. Part of ribose phosphate diphosphokinase complex. Human ortholog(s) of this gene implicated in Arts syndrome; X-linked deafness 1; X-linked recessive disease (multiple); gout; and retinitis pigmentosa. Orthologous to human PRPS1 (phosphoribosyl pyrophosphate synthetase 1); PRPS1L1 (phosphoribosyl pyrophosphate synthetase 1 like 1); and PRPS2 (phosphoribosyl pyrophosphate synthetase 2).
SGD Description
5-phospho-ribosyl-1(alpha)-pyrophosphate synthetase; synthesizes PRPP, which is required for nucleotide, histidine, and tryptophan biosynthesis; one of five related enzymes, which are active as heteromultimeric complexes