CAD

CAD (Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase) is a Protein Coding gene. Diseases associated with CAD include Epileptic Encephalopathy, Early Infantile, 50. Among its related pathways are Pyrimidine metabolism (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and enzyme binding. An important paralog of this gene is CPS1.

Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase

This protein is a 'fusion' protein encoding four enzymatic activities of the pyrimidine pathway (GATase, CPSase, ATCase and DHOase).

de novo' pyrimidine nucleobase biosynthetic process Source: UniProtKB
'de novo' UMP biosynthetic process Source: UniProtKB-UniPathway
Animal organ regeneration Source: Ensembl
Cellular response to drug Source: Ensembl
Cellular response to epidermal growth factor stimulus Source: Ensembl
Citrulline biosynthetic process Source: GO_Central
Drug metabolic process Source: BHF-UCL
Female pregnancy Source: Ensembl
Glutamine metabolic process Source: BHF-UCL
Heart development Source: Ensembl
Lactation Source: Ensembl
Liver development Source: Ensembl
Nitrogen compound metabolic process Source: GO_Central
Peptidyl-threonine phosphorylation Source: BHF-UCL
Protein autophosphorylation Source: BHF-UCL
Pyrimidine nucleoside biosynthetic process Source: Reactome
Response to amine Source: Ensembl
Response to caffeine Source: Ensembl
Response to cortisol Source: Ensembl
Response to insulin Source: Ensembl
Response to starvation Source: Ensembl
Response to testosterone Source: Ensembl
UTP biosynthetic process Source: GO_Central

Nucleus; Cytoplasm. Cytosolic and unphosphorylated in resting cells, translocates to the nucleus in response to EGF stimulation, nuclear import promotes optimal cell growth.

Developmental and epileptic encephalopathy 50 (DEE50): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE50 is an autosomal recessive, progressive disease with onset in infancy and favorable response to treatment with oral uridine.

Activated by MAP kinase (Erk1/2) phosphorylation just prior to the S phase of the cell cycle, when the demand for pyrimidine nucleotides is greatest, and down-regulated as the cells emerge from S phase by protein kinase A (PKA) phosphorylation. Phosphorylation at Ser-1859 by RPS6KB1 downstream of MTOR promotes oligomerization and stimulates dihydroorotase activity. Phosphorylation at Ser-1406 reduces sensitivity to feedback inhibition by UTP.