CPS1

(redirected from carbamoylphosphate synthetase)

CPS1

A gene on chromosome 2q35 that encodes a mitochondrial enzyme which catalyses synthesis of carbamoyl phosphate from ammonia and bicarbonate, a reaction that is the first committed step of the urea cycle and important in removing excess ammonia from cells.

Molecular pathology
Defects of CPS1 cause carbamoyl phosphate synthetase deficiency, and increase susceptibility to persistent pulmonary hypertension and venoocclusive disease after bone marrow transplantation.
References in periodicals archive ?
Reciprocal regulations of glutamine synthetase and carbamoylphosphate synthetase levels in rat liver.
Among the abnormal samples were the following: 14 with propionic acidemia; 11 with methylmalonic aciduria; 11 with cystinuria; 6 with alkaptonuria; 4 with glutaric aciduria I; 3 each with pyruvate decarboxylase deficiency, ketosis, Hartnup disorder, cystinosis, neuroblastoma, phenylketonuria, ethanol toxicity, glycerol kinase deficiency, and hydroxymethylglutaryl-CoA-lyase deficiency; and 2 with carbamoylphosphate synthetase deficiency.
Enzyme-linked immunosorbent assay of carbamoylphosphate synthetase I: plasma enzyme in rat experimental hepatitis and its clearance.