IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CPS1
Definition : Molecular assay reagents intended to identify mutations in the carbamoyl-phosphate synthetase 1, mitochondrial (CPS1) gene, located at chromosome 2q35, which encodes for carbamoyl-phosphate synthetase 1, a rate-limiting enzyme in the hepatic urea cycle that plays a role in removing ammonia from the cell. Mutations at this locus have been identified in patients with infantile early-onset carbamoyl-phosphate synthetase I (CPS1) deficiency.
Entry Terms : "Carbamoylphosphate Synthetase I (CPSI) Deficiency Gene Mutation Detection Reagents" , "Urea Cycle Disorders Gene Mutation Detection Reagents" , "CPS1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, CPS1"
UMDC code : 24371