Gene: [02p2/CAD] CAD trifunctional protein; carbamoyl phosphate synthetase 2, soluble (EC:6.3.4.16); aspartate transcarbamylase (EC:2.1.3.2); dihydroorotase (EC:3.5.2.3);

COM

Some sources indicate an old enzyme code, EC:2.7.2.5.

FUN

CAD gene codes for a protein that possesses three different enzymatic activities and thus catalyzes the first three stages of pirimidine biosynthesis (those are six for uridine and nine for cytidine). The fourth stage is catalyzed by dihydroorotate dehydrogenase (EC:1.3.3.1), which gene has not been found yet; the fifth and sixth stages are controlled by the same gene, which codes for a bifunctional enzyme, OPRT/orotate phosphoribosyl transferase and UMPS/orotidine-5'-phosphate decarboxylase (GEM:03q13/UMPS)."

FAG

Another isoform, carbamoyl phosphate synthetase 1 (mitochondrial) was revealed, which deficiency causes hyperammonemia II (GEM:02q35/CPS1)."

REF

GEN,PRO,LOC "Chen &: Hum Genet, 82, 40-44, 1989
LOC,PRO "Chen &: AJHG, 41, A161, 1987
FUN,PRO "De Saint Vincent &: Cell, 27, (Dec, Part I), 267-277, 1981
FUN,PRO "Meinkoth &: Mol Cell Biol, 7, N4, 1415-1424, 1987
FUN,PRO "Padgett RA &: Mol Cell Biol, 2, 293-301, 1982
LOC,MOL,CYG "Rocchi &: CCG, 46, (HGM9), 682-683, 1987
FUN,PRO "Shigesada &: Mol Cell Biol, 5, 1735-1742, 1985

SWI

 SWISSPROT: P27708

KEY

nucm, urea, repr

CLA

coding, basic

LOC

02 p22-21

MIM

 MIM: 114010

EZN

 ENZYME: 2.1.3.2