Carbamoyl Phosphate Synthetase/Aspartate Transcarbamylase/Dihydroorotase

Alternative Names

  • Cad
  • Cad Trifunctional Protein
  • Cpsase/Atcase/Dhoase
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OMIM Number

114010

NCBI Gene ID

790

Uniprot ID

P27708

Length

26,575 bases

No. of Exons

45

No. of isoforms

1

Protein Name

CAD protein

Molecular Mass

242984 Da

Amino Acid Count

2225

Genomic Location

chr2:27,217,368-27,243,942

Gene Map Locus
2p23.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004341.5:c.2892+164T>CUnited Arab EmiratesNC_000002.12:g.27232858T>CBenignNG_046394.1:g.20469T>C; NM_004341.5:c.2892+164T>C; NP_004332.2:p.?133997581287534
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