| Type | Description |
|---|---|
| Definition | N-acetylglutamate synthase |
| Date | Results | Publications |
|---|---|---|
| 2019-11-30 12:25:00 | Variation in the N-acetylglutamate Synthase Enhancer Region is associated with N-Acetylglutamate Synthase Deficiency. | 30337552 |
| 2017-12-16 12:12:00 | The specificity of the assay was validated by demonstrating a complete deficiency of NAGS in liver homogenates from Nags -/- mice. CONCLUSION: The novel NAGS enzyme assay reported herein can be used for the diagnosis of inherited NAGS deficiency and may also be of value in the study of secondary hyperammonemia present in various inborn errors of metabolism as well as drug treatment. | 27771289 |
| 2017-12-16 10:39:00 | Results identified 36 NAGS mutations in NAGSD patients; 61% of which are missense mutations. Phenotypes associated with these mutations in the GNAT domain are more severe than phenotypes of that of amino acid kinase domain. Enzyme activity and stability assays with 12 mutations, together with in silico structural analysis, support the pathogenic role of most NAGSD-associated mutations found. | 27037498 |
| 2015-05-02 10:56:00 | Data indicate the formation of alternative N-acylglutamates by N-acetylglutamate synthase (NAGS). | 23643712 |
| 2012-09-01 11:02:00 | Sp1, CREB, HNF-1, and NF-Y, known to be responsive to hormones and diet, regulate NAGS transcription | 22383952 |
| Type | IDs |
|---|---|
| Synonymous | AGAS, ARGA |
| Gene |
UniProtKB-ID:
NAGS_HUMAN,
Q2NKP2_HUMAN
UniprotKB:
Q8N159,
Q2NKP2
UniParc:
UPI000006E37E,
UPI000067DA77
EMBL:
AY116538,
BC111713,
AK314432,
AY116537,
AK300923,
AY158070
Ensembl:
ENSG00000161653
KO:
hsa:162417
|
| Nucleutide sequences |
EMBL-CDS:
BAG37046.1,
AAN76451.1,
AAM75385.1,
AAM75386.1,
BAG62555.1,
AAI11714.1
Ensembl_TRS:
ENST00000293404
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000293404
RefSeq:
NP_694551.1,
XP_011522740.1,
XP_011522741.1
|
| Others |
UniRef100:
UniRef100_Q8N159
UniRef90:
UniRef90_Q8N159
UniRef50:
UniRef50_Q8N159
UniGene:
Hs.8876
CCDS:
CCDS11473.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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