UMPS Antibody – Mouse Monoclonal

This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

UMPS: Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1). A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 4.1.1.23; Transferase; Xenobiotic Metabolism - drug metabolism - other enzymes; Nucleotide Metabolism - pyrimidine; EC 2.4.2.10; Lyase

Chromosomal Location of Human Ortholog: 3q13

Cellular Component: cytoplasm; cytosol; nucleus

Molecular Function: orotate phosphoribosyltransferase activity; orotidine-5'-phosphate decarboxylase activity

Biological Process: lactation; 'de novo' pyrimidine base biosynthetic process; pyrimidine base metabolic process; nucleobase, nucleoside and nucleotide metabolic process; UMP biosynthetic process; pyrimidine nucleoside biosynthetic process; female pregnancy

Disease: Orotic Aciduria