Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
CPSI
CPSase I carbamoyl-phosphate synthetase I |
| gptkbp:associatedWith |
carbamoyl phosphate synthetase I deficiency
|
| gptkbp:biologicalProcess |
catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate
|
| gptkbp:discoveredBy |
biochemical genetics research
|
| gptkbp:encodes |
carbamoyl-phosphate synthase 1
|
| gptkbp:Entrez_Gene_ID |
1373
|
| gptkbp:expressedIn |
liver
|
| gptkbp:fullName |
carbamoyl-phosphate synthase 1
|
| gptkbp:function |
gptkb:urea_cycle
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:2327
|
| https://www.w3.org/2000/01/rdf-schema#label |
CPS1 gene
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
chromosome 2
2q34 |
| gptkbp:mutationAssociatedWith |
hyperammonemia
|
| gptkbp:OMIM |
608307
|
| gptkbp:orthologInMouse |
Cps1
|
| gptkbp:pathway |
gptkb:urea_cycle
amino acid metabolism |
| gptkbp:referenceGenome |
NM_001875
|
| gptkbp:UniProtID |
gptkb:P31327
|
| gptkbp:bfsParent |
gptkb:CPS1
|
| gptkbp:bfsLayer |
6
|