Gene Symbol | CAD |
Entrez Gene ID | 790 |
Full Name | carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
Synonyms | CDG1Z,EIEE50,GATD4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 50, 616457 (3) |