Gene: [02q35/CPS1] carbamoyl phosphate synthetase 1, mitochondrial; hyperammonemia II (due to carbamoyl phosphate synthetase 1 deficiency);

COM	Adcock-1984b provided a provisional assignment of the CPS1 gene to Chr 2p (the CPS2 gene is mapped to that region, see GEM:02p2/CAD). Summar-1995 and Hoshide-1995 reassigned the CPS1 gene to Chr 2q35."
FUN	[1] Carbamoyl phosphate synthetase 1 catalyzes the first committed step of waste nitrogen metabolism in the urea cycle. [2] The reaction catalyzed: 2 ATP + NH(3) + CO(2) + H(2)O = = 2 ADP + orthophosphate + carbamoyl phosphate."
NOM	[1] The disease was previously referred to as 'hyperammonemia I'. [2] In contrast to the generally accepted numbering of isoenzyme genes (those for cytoplasmic isoforms have number 1, and those for mitochondrial isoforms, number 2), the historical denotation, 1, was kept for the mitochondrial carbamoyl phosphate synthetase."
REF	PRO,LOC "Adcock MW &: Fed Proc, 43, 1726, 1984a PRO,LOC "Adcock MW, O'Brien WE: JBC, 259, N21, 13471-13476, 1984b PHE,TER "Batshaw &: New Engl J Med, 306, 1387-1392, 1982 PHE,TER "Batshaw &: New Engl J Med, 292, 1085-1090, 1975 PHE,TER "Brusilow &: New Engl J Med, 310, 1630-1634, 1984 PHE,FOG,PAT "Ebels EJ: Arch Dis Child, 47, 47-51, 1972 PHE,FOG,PAT "Farriaux &: Acta Paediatr Scand, 66, 529-534, 1977 PHE,FOG,PAT "Fearon ER &: Hum Genet, 70, 207-210, 1985 PHE,FOG,PAT "Freeman &: Arch Neurol, 23, 430-437, 1970 PHE,FOG,PAT "Gelehrter, Snodgrass: New Engl J Med, 290, 430-433, 1974 PHE,FOG,PAT "Granot &: Isr J Med Sci, 22, 463-465, 1986 PRO,SEQ,PAT "Haraguchi Y &: Gene, 107, N2, 335-340, 1991 PHE,FOG,PAT "Hommes &: Arch Dis Child, 44, 688-693, 1969 LOC "Hoshide R &: Genomics, 28, N1, 124-125, 1995 FUN,PEP,MEB "Jackson &: Annu Rev Genet, 20, 431-464, 1986 FUN,PEP,MEB "Lusty CJ: Eur J Biochem, 85, 373-383, 1978 PHE,FOG,PAT "McReynolds &: AJHG, 33, 345-353, 1981 PHE,FOG,PAT "Montagos &: Arch Dis Child, 53, 230-234, 1978 PRO,LOC "O'Brien &: AJHG, 35, A181, 1983 FUN,PEP,MEB "Pierson, Brien: JBC, 255, 7891-7895, 1980 LOC "Summar ML &: CCG, 71, N3, 266-267, 1995 PHE,FOG,PAT "Suzuki &: Eur J Pediatr, 145, 406-408, 1986 PHE,FOG,PAT "van der Heiden C &: Clin Genet, 23, 363-368, 1983
CLA	coding, basic
LOC	02 q35
MIM	MIM: 237300
EZN	ENZYME: 6.3.4.16