Inferred by orthology to human genes with DO annotation (HGNC:12563)
Disease_relevance
Human Uridine monophosphate synthetase (UMPS) catalyses the last step of pyrimidine nucleotide synthesis which involves the conversion of orotate to uridine monophosphate (UMP); mutations in UMPS lead to Orotic aciduria; Orotic aciduria results in megaloblastic anemia and is associated with physical and mental retardation; in C. elegans, the loss of the bifunctional UMP synthase protein, umps-1, which carries catalytic activities for OPRTase (orotate phosphoribosyltransferase) and ODCase (orotate monophosphate decarboxylase) leads to both hypersensitivity to radiation and a decline in both metabolic rate and lifespan.
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.