carbamoyl-phosphate synthase : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 3 페이지: 1

Carbamoyl-Phosphate Synthase (Ammonia) - 새창 An enzyme that catalyzes the formation of carbamoyl phosphate from ATP, carbon dioxide, and ammonia. This enzyme is specific for arginine biosynthesis or the urea cycle. Absence or lack of this enzyme may cause CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE. EC 6.3.4.16.
Synonyms : CP Synthase I, Carbamoyl-Phosphate Synthetase (Ammonia), Carbamoyl-Phosphate Synthetase I, Carbamoylphosphate Synthetase I, Carbamyl Phosphate Synthase (Ammonia), Carbamyl-Phosphate Synthase (Ammonia), I, Carbamoyl-Phosphate Synthetase, Synthase I, CP
Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) - 새창 An enzyme that catalyzes the formation of carbamoyl phosphate from ATP, carbon dioxide, and glutamine. This enzyme is important in the de novo biosynthesis of pyrimidines. EC 6.3.5.5.
Synonyms : Carbamoyl-Phosphate Synthase (Glutamine), Carbamoylphosphate Synthetase II, Carbamyl Phosphate Synthase II, Carbamyl-Phosphate Synthase (Glutamine), Synthetase II, Carbamoylphosphate
Carbamoyl-Phosphate Synthase I Deficiency Disease - 새창 A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
Synonyms : Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease, Carbamoyl-Phosphate Synthetase I Deficiency Disease, Carbamoylphosphate Synthetase I Deficiency Disease, Carbamyl Phosphate Synthetase Deficiency Disease