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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
liver | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
carbamoyl phosphate synthetase 1 | - |
Homo sapiens |
CPS1 | - |
Homo sapiens |
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 |