CPS1 (gene)

The CPS1 gene encodes carbamoyl phosphate synthetase I, a mitochondrial enzyme that catalyzes the first and rate-limiting step of the urea cycle by synthesizing carbamoyl phosphate from ammonia and bicarbonate. This crucial reaction enables the safe removal of excess nitrogen from the body by converting toxic ammonia into urea, which is then excreted by the kidneys. Mutations in the CPS1 gene can lead to carbamoyl phosphate synthetase I deficiency, an inherited metabolic disorder that causes hyperammonemia and can have severe neurological consequences if untreated.