ACD Antibodies

Target Information

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.

Synonyms

ACD; adrenocortical dysplasia; adrenocortical dysplasia homolog; adrenocortical dysplasia homolog (mouse); Adrenocortical dysplasia protein; Adrenocortical dysplasia protein homolog; PIP1; POT1 and TIN2-interacting protein; PTOP; TIN2 interacting protein 1; TINT1; TPP 1; TPP I; TPP1; TPPI