Aliases for CAD Gene
External Ids for CAD Gene
Previous GeneCards Identifiers for CAD Gene
The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
GeneCards Summary for CAD Gene
CAD (Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase) is a Protein Coding gene. Diseases associated with CAD include Developmental And Epileptic Encephalopathy 50. Among its related pathways are Transcription Ligand-dependent activation of the ESR1/SP pathway and Validated targets of C-MYC transcriptional activation. Gene Ontology (GO) annotations related to this gene include identical protein binding and enzyme binding. An important paralog of this gene is CPS1.
UniProtKB/Swiss-Prot Summary for CAD Gene
This protein is a 'fusion' protein encoding four enzymatic activities of the pyrimidine pathway (GATase, CPSase, ATCase and DHOase).