Species Human Entrez 790 | Human Mouse Ensembl ENSG00000084774 | |
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Aliases CAD, CDG1Z, carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase External IDs MGI: 1916969 HomoloGene: 1412 GeneCards: CAD | ||
CAD protein (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase) is a trifunctional multi-domain enzyme involved in the first three steps of pyrimidine biosynthesis. De-novo synthesis starts with cytosolic carbamoylphosphate synthetase II which uses glutamine, carbon dioxide and ATP. This enzyme is inhibited by uridine triphosphate (feedback inhibition).
In 2015, the first observed pathological mutations of CAD were found in a four-year-old boy.
References
CAD (protein) Wikipedia(Text) CC BY-SA