Official Full Name
carbamoyl-phosphate synthase 1, mitochondrial
The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate.;This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from;cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants;encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the;mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency,;susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow;transplantation.
CPS1; carbamoyl-phosphate synthase 1, mitochondrial; carbamoyl phosphate synthetase 1, mitochondrial; carbamoyl-phosphate synthase [ammonia], mitochondrial; carbamoylphosphate synthetase I; CPSASE1; carbamyl phosphate synthetase 1; carbamoyl phosphate synthetase 1; carbamoyl-phosphate synthetase 1, mitochondrial; CPSI