CPS1 : carbamoyl-phosphate synthase 1
Description
The CPS1 (carbamoyl-phosphate synthase 1) is a protein-coding gene located on chromosome 2.
The CPS1 gene provides instructions for making the enzyme carbamoyl phosphate synthetase I. This enzyme is a key player in the urea cycle, a series of reactions that take place in liver cells. The urea cycle handles excess nitrogen generated during protein breakdown. This nitrogen is converted into urea, which is then excreted by the kidneys. This process prevents the buildup of toxic ammonia. CPS1 specifically controls the first step of the urea cycle, where excess nitrogen compounds are incorporated into the cycle for processing.
CPS1 is also known as CPSASE1, GATD6, PHN.
Associated Diseases
- Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to
- Carbamoyl-phosphate synthetase 1 deficiency
- Carbamoyl phosphate synthetase I deficiency
