CAD (protein)

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CAD
4c6c.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CAD, CDG1Z, carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
External IDs MGI: 1916969 HomoloGene: 1412 GeneCards: CAD
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001306079
NM_004341

NM_001289522
NM_001289523
NM_023525

RefSeq (protein)

NP_001293008
NP_004332

NP_001276451.1
NP_076014.1
NP_001276451
NP_001276452
NP_076014

Location (UCSC) Chr 2: 27.22 – 27.24 Mb Chr 5: 31.05 – 31.08 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Identifiers
Symbol CAD
Entrez 790
HUGO 1424
OMIM 114010
RefSeq NM_004341
UniProt P27708
Other data
EC number 2.1.3.2
Locus Chr. 2 p21

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.[3]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH (June 2015). "Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors". Human Molecular Genetics. 24 (11): 3050–7. doi:10.1093/hmg/ddv057. PMC 4424951Freely accessible. PMID 25678555. 

External links[edit]