The prpsap2 gene encodes a phosphoribosyl pyrophosphate synthetase-associated protein 2, which functions as an enzyme modulator involved in purine metabolism and nucleotide biosynthesis. This cytoplasm...[+]

The prpsap2 gene encodes a phosphoribosyl pyrophosphate synthetase-associated protein 2, which functions as an enzyme modulator involved in purine metabolism and nucleotide biosynthesis. This cytoplasmic protein is expressed during early developmental stages, with prominent expression detected in the brain, eye, neural tube, and branchial arches. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD