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skos:definition |
MSH: 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.,CSP: mitochondrial urea cycle enzyme which catalyzes the formation of carbamoylphosphate (a precursor of arginine and pyrimidines) from ammonia deficiency causes hyperammonemia type II.
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