Gene: CAD

Alternate names for this Gene: CDG1Z|DEE50|EIEE50|GATD4

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.3

Description of this Gene: carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

Type of Gene: protein-coding

rs763410987 in CAD gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 PMID 28087732 2017 Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

PMID 25678555 2015 Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

rs13399758 in CAD gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs13399758 in CAD gene and Triglycerides measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.