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Carbamoyl phosphate synthetase (glutamine-hydrolysing) (EC 6.3.5.5) is an enzyme that catalyzes the reactions that produce carbamoyl phosphate in the cytosol (as opposed to type I, which functions in the mitochondria).
Carbamoyl phosphate synthetase catalyzes the ATP-dependent synthesis of carbamoyl phosphate from glutamine (EC 6.3.5.5) or ammonia (EC 6.3.4.16) and bicarbonate. [1] This ATP-grasp enzyme catalyzes the reaction of ATP and bicarbonate to produce carboxy phosphate and ADP. Carboxy phosphate reacts with ammonia to give carbamic acid.
CAD protein (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase) is a trifunctional multi-domain enzyme involved in the first three steps of pyrimidine biosynthesis. De-novo synthesis starts with cytosolic carbamoylphosphate synthetase II which uses glutamine, carbon dioxide and ATP.
Carbamoyl phosphate synthetase I deficiency has an autosomal recessive pattern of inheritance.. CPS I deficiency is inherited in an autosomal recessive manner. [1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase , the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle , responsible for converting carbamoyl phosphate and ornithine into citrulline .
Carbamoyl phosphate is ... The synthesis is catalyzed by the enzyme carbamoyl phosphate synthetase. [2] ... and a subsequent deficiency in the production of carbamoyl ...
Carbamoyl phosphate synthetase I deficiency; Citrullinemia type II (citrin deficiency) Disorders of organic acid metabolism (organic acidurias) alkaptonuria; Combined malonic and methylmalonic aciduria (CMAMMA) 2-hydroxyglutaric acidurias; Disorders of fatty acid oxidation and mitochondrial metabolism
Ornithine is recycled and, in a manner, is a catalyst. First, ammonia is converted into carbamoyl phosphate (H 2 NC(O)OPO 2− 3) by carbamoyl phosphate synthetase. Ornithine transcarbamylase catalyzes the reaction between carbamoyl phosphate and ornithine to form citrulline and phosphate (P i).