Carbamoyl-phosphate synthase 1 is an protein that in humans is encoded by the CPS1.
Function
Carbamoyl phosphate synthetase I, is a mitochondrial enzyme that catalyzes the first and rate-limiting step of the urea cycle through converting ammonia and bicarbonate into carbamoyl phosphate. This reaction enables the removal of excess nitrogen from the body by converting toxic ammonia into urea, which is then excreted by the kidneys.
Clnical significance
Mutations in the CPS1 gene can lead to carbamoyl phosphate synthetase I deficiency, an inherited metabolic disorder that causes hyperammonemia.
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