CPS1: Proteins and Enzymes

The protein encoded by the CPS1 gene is an enzyme that catalyzes the first committed step of the hepatic urea cycle, which is important in the removal of excess urea from cells. There are two isozymes of this enzyme, and the encoded protein is the mitochondrial form. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion.