Aliases for CPS1 Gene
External Ids for CPS1 Gene
Previous GeneCards Identifiers for CPS1 Gene
The mitochondrial enzyme encoded by this gene 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. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]
GeneCards Summary for CPS1 Gene
CPS1 (Carbamoyl-Phosphate Synthase 1, Mitochondrial) is a Protein Coding gene. Diseases associated with CPS1 include carbamoylphosphate synthetase i deficiency and carbamoyl-phosphate synthase deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include calcium ion binding and phospholipid binding. An important paralog of this gene is CAD.
UniProtKB/Swiss-Prot for CPS1 Gene
Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell