The gmpr2 gene encodes a signaling molecule protein involved in purine metabolism, specifically functioning as a gmp reductase that catalyzes the irreversible reductive deamination of gmp to imp. This ...[+]

The gmpr2 gene encodes a signaling molecule protein involved in purine metabolism, specifically functioning as a gmp reductase that catalyzes the irreversible reductive deamination of gmp to imp. This enzymatic activity is part of the purine salvage pathway and contributes to maintaining the intracellular balance of guanine nucleotides. The protein is cytoplasmic. Expression is detected in the brain, eye, neural tube, spinal cord, and pronephros during development. [-]

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