An enzyme that catalyzes the transfer of a carbamyl
group from carbamyl phosphate to ornithine to form citrulline; it is a constituent reaction of the urea cycle. This enzyme normally
occurs in the mitochondria of liver cells, but only to a minute extent
in serum. Since it does not occur to a significant extent in serum,
kidney, brain, etc., and only 1% or 2% of the hepatic concentration
occurs in small intestine, its presence in serum is a specific indica_x0002_tion of damage to liver cells.
Biochem/physiol Actions
Mutations in ornithine transcarbamylase cause Ornithine transcarbamylase deficiency which prevents the clearance of the byproduct ammonia leading to hyperammonemia.
