| Gene Symbol |
NAGS
|
| Entrez Gene |
162417
|
| Alt Symbol |
AGAS, ARGA
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
N-acetylglutamate synthase
|
| Other Description |
N-acetylglutamate synthase, mitochondrial|amino-acid acetyltransferase
|
| Swissprots |
Q8N159 Q8IWR4 B2RAZ9
|
| Accessions |
AAM75385 EAW51643 Q8N159 AI241153 AK074407 AK091938 AK300923 BAG62555 AK314432 BAG37046 AY116538 AAM75386 AY158070 AAN76451 BC111713 AAI11714 BF589712 XM_011524438 XP_011522740 XM_011524439 XP_011522741 NM_153006 NP_694551
|
| Function |
Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity.
|
| Subcellular Location |
Mitochondrion matrix.
|
| Tissue Specificity |
Highly expressed in the adult liver, kidney and small intestine. Weakly expressed in the fetal liver, lung, pancreas, placenta, heart and brain tissue. {ECO:0000269|PubMed:12459178, ECO:0000269|PubMed:12754705}.
|
| Top Pathways |
Arginine and proline metabolism, Biosynthesis of amino acids, 2-Oxocarboxylic acid metabolism
|