Description

The CPS1 gene encodes the carbamoyl phosphate synthetase I, a mitochondrial enzyme that catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. Mutations in this gene have been associated with carbamoylphosphate synthetase I deficiency, an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia)(Haberle et al., 2011).

External Information

Click here for more information about the CPS1 whole gene NGS genetic test.