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Literature summary for 6.3.4.16 extracted from

  • Canter, J.A.; Summar, M.L.; Smith, H.B.; Rice, G.D.; Hall, L.D.; Ritchie, M.D.; Motsinger, A.A.; Christian, K.G.; Drinkwater, D.C.; Scholl, F.G.; Dyer, K.L.; Kavanaugh-McHugh, A.L.; Barr, F.E.
    Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study (2007), Mitochondrion, 7, 204-210.
    View publication on PubMedView publication on EuropePMC

Activating Compound

Activating Compound Comment Organism Structure
N-acetylglutamate essential Homo sapiens

Protein Variants

Protein Variants Comment Organism
T1405N significant change in CPSI enzymatic function Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
Homo sapiens 5739
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + NH4+ + CO2 + H2O
-
Homo sapiens ADP + phosphate + carbamoylphosphate
-
?

Synonyms

Synonyms Comment Organism
carbamyl-phosphate synthetase I
-
Homo sapiens
CPSI
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
Homo sapiens