CAD Chromosome 2

Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
107 variants 107 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Glutamine amidotransferase class 1 domain containing
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000084774
Associated Conditions (7)
Developmental and epileptic encephalopathy
50
Infantile epileptic dyskinetic encephalopathy
Inborn genetic diseases
CAD-related disorder
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Key Variants
All Variants (107)
RSID Category Clinical Significance Conditions
RS766975615 Health Risk Pathogenic
RS769567624 Health Risk Pathogenic Developmental and epileptic encephalopathy, 50, Developmental and epileptic encephalopathy
RS771348417 Health Risk Pathogenic
RS772034961 Health Risk Pathogenic
RS982518841 Health Risk Pathogenic
RS1159635090 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 50, Developmental and epileptic encephalopathy
RS139332887 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 50, Infantile epileptic dyskinetic encephalopathy
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