The gene ctps1 encodes cytidine 5'-triphosphate synthase 1, an enzyme responsible for catalyzing the rate-limiting step in the de novo synthesis of CTP from UTP. This protein is localized to the cytopl...[+]

The gene ctps1 encodes cytidine 5'-triphosphate synthase 1, an enzyme responsible for catalyzing the rate-limiting step in the de novo synthesis of CTP from UTP. This protein is localized to the cytoplasm and functions in nucleotide metabolism to maintain intracellular CTP pools. Expression is observed during development and in adult tissues including the eye, brain, spinal cord, olfactory epithelium, branchial arches, pronephros, and liver. [-]

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