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Literature summary for 6.3.4.16 extracted from

  • Haeberle, J.; Shchelochkov, O.A.; Wang, J.; Katsonis, P.; Hall, L.; Reiss, S.; Eeds, A.; Willis, A.; Yadav, M.; Summar, S.; Summar, S.; Lichtarge, O.; Rubio, V.; Wong, L.J.; Summar, M.
    Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations (2011), Hum. Mutat., 32, 579-589.
    View publication on PubMedView publication on EuropePMC

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Synonyms

Synonyms Comment Organism
carbamoyl phosphate synthetase I
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Homo sapiens
CPSI
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Homo sapiens

General Information

General Information Comment Organism
malfunction deficiency of carbamoyl phosphate synthetase I in human results in hyperammonemia ranging from neonatally lethal to environmentally induced adult-onset disease Homo sapiens