CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase)
2006-10-01 AffiliationIdentity
HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
CDG1Z,DEE50,EIEE50,GATD4
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 790
MIM: 114010
HGNC: 1424
Ensembl: ENSG00000084774
Variants:
dbSNP: 790
ClinVar: 790
TCGA: ENSG00000084774
COSMIC: CAD
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37540500 | 2023 | Beyond genetics: Deciphering the impact of missense variants in CAD deficiency. | 1 |
| 37540500 | 2023 | Beyond genetics: Deciphering the impact of missense variants in CAD deficiency. | 1 |
| 34288185 | 2021 | Deciphering CAD: Structure and function of a mega-enzymatic pyrimidine factory in health and disease. | 16 |
| 34288185 | 2021 | Deciphering CAD: Structure and function of a mega-enzymatic pyrimidine factory in health and disease. | 16 |
| 31967710 | 2020 | New regulatory mechanism-based inhibitors of aspartate transcarbamoylase for potential anticancer drug development. | 4 |
| 32370067 | 2020 | The Cellular Protein CAD is Recruited into Ebola Virus Inclusion Bodies by the Nucleoprotein NP to Facilitate Genome Replication and Transcription. | 15 |
| 32720728 | 2020 | Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene. | 6 |
| 31967710 | 2020 | New regulatory mechanism-based inhibitors of aspartate transcarbamoylase for potential anticancer drug development. | 4 |
| 32370067 | 2020 | The Cellular Protein CAD is Recruited into Ebola Virus Inclusion Bodies by the Nucleoprotein NP to Facilitate Genome Replication and Transcription. | 15 |
| 32720728 | 2020 | Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene. | 6 |
| 30268498 | 2018 | Crystal structures of monometallic dihydropyrimidinase and the human dihydroorotase domain K1556A mutant reveal no lysine carbamylation within the active site. | 10 |
| 30315107 | 2018 | Characterization of the catalytic flexible loop in the dihydroorotase domain of the human multi-enzymatic protein CAD. | 11 |
| 30268498 | 2018 | Crystal structures of monometallic dihydropyrimidinase and the human dihydroorotase domain K1556A mutant reveal no lysine carbamylation within the active site. | 10 |
| 30315107 | 2018 | Characterization of the catalytic flexible loop in the dihydroorotase domain of the human multi-enzymatic protein CAD. | 11 |
| 28007989 | 2017 | CAD mutations and uridine-responsive epileptic encephalopathy. | 52 |
Citation
Dessen P
CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43178/cad-(carbamoyl-phosphate-synthetase-2-aspartate-transcarbamylase-and-dihydroorotase)
