UMPS gene

uridine monophosphate synthetase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Orotic aciduria

From UniProt:

Orotic aciduria 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. [MIM:258900]

Cytogenetic Location: 3q21.2, which is the long (q) arm of chromosome 3 at position 21.2

Molecular Location: base pairs 124,730,366 to 124,749,273 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q21.2, which is the long (q) arm of chromosome 3 at position 21.2