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Literature summary for 6.3.4.16 extracted from

  • Ono, H.; Suto, T.; Kinoshita, Y.; Sakano, T.; Furue, T.; Ohta, T.
    A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age (2009), Brain Dev., 31, 779-781.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
R1262X a premature stop codon mutation naturally occuring in carbamoyl phosphate synthetase 1 deficiency, CPS1D Homo sapiens
R803G naturally occuring missense mutation involved in carbamoyl phosphate synthetase 1 deficiency, CPS1D 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
liver
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
carbamoyl phosphate synthetase 1
-
Homo sapiens
CPS1
-
Homo sapiens

General Information

General Information Comment Organism
malfunction carbamoyl phosphate synthetase 1 deficiency, CPS1D, is an autosomal recessive disorder of the urea cycle which causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed onset type, phenotype, overview Homo sapiens