EC Number   |
General Information |
Reference |
|---|
    6.3.4.16 | 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 |
702953 |
| 6.3.4.16 | malfunction |
deficiency of carbamoyl phosphate synthetase I in human results in hyperammonemia ranging from neonatally lethal to environmentally induced adult-onset disease |
715151 |
| 6.3.4.16 | malfunction |
deficiency of the urea cycle enzyme carbamylphosphate synthetase 1 causes hyperammonemia with a vast range of clinical severity from neonatal onset with early lethality to onset after age 40 with rare episodes of hyperammonemic confusion, phenotypes of patients heterozygous for two mutations of the CPS1 gene, overview |
703281 |
| 6.3.4.16 | malfunction |
single nucleotide polymorphisms in the gene encoding CPS1 are involved, together with mutations in other genes encoding for other enzymes, in the development of severe asthma by African American children, which show a higher rate of this disease compared to other ethnics, overview. A combination of four single nucleotide polymorphisms (SNPs) within GSNOR, adrenergic receptor beta 2, and carbamoyl phosphate synthetase-1 give a 70% predictive value for lack of response to therapy |
706078 |
| 6.3.4.16 | metabolism |
CPS1 catalyzes the initial step of the urea cycle for ammonia detoxification and disposal |
703149 |
| 6.3.4.16 | metabolism |
CPS1 is a key enzyme of the urea cycle that catalyzes condensation of ammonia with bicarbonate to form carbamoyl phosphate |
-, 702101 |
| 6.3.4.16 | metabolism |
CPSI is the first urea cycle enzyme |
702142 |
| 6.3.4.16 | physiological function |
CPSI is a key regulator of the urea cycle for ammonia detoxification in animals |
702142 |
| 6.3.4.16 | physiological function |
CPSI is a key regulator of the urea cycle for ammonia detoxification in animals, including humans |
702142 |
| 6.3.4.16 | physiological function |
labeling of CPS1 gene in cell lines HepG2, and LO2, with fluorescence protein. In both CPS1 reporter cell lines, the fluorescence intensity is positively correlated with cellular CPS1 mRNA expression, ammonia elimination and secreted urea, and reflects ammonia detoxification in a dose-dependent manner. High-level CPS1 reporter clones also reserve other critical hepatocellular functions, for example albumin secretion and cytochrome 450 metabolic functions. Sodium phenylbutyrate and resveratrol enhance metabolism-related gene expression and liver-enriched transcription factors C/EBPalpha, HNF4alpha |
745438 |
