Clinical Significance
A UMP synthetase deficiency can result in a metabolic disorder called orotic aciduria.
Deficiency of this enzyme is an inherited autosomal recessive trait in Holstein cattle, and it will cause death before birth.
Deficiency of the enzyme can be studied in the model organism Caenorhabditis elegans. The rad-6 strain has a premature stop codon eliminating the orotidine 5’-decarboxylase domain of the protein; this domain does not occur in any other proteins encoded by the genome. The strain has a pleiotropic phenotype including reduced viability and fertility, slow growth and radiation sensitivity.
Read more about this topic: Uridine Monophosphate Synthetase
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