Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 162417
MIM: 608300
HGNC: 17996
Ensembl: ENSG00000161653
Variants:
dbSNP: 162417
ClinVar: 162417
TCGA: ENSG00000161653
COSMIC: NAGS
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000161653 | ENST00000293404 | Q8N159 |
| ENSG00000161653 | ENST00000589767 | K7EK11 |
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA165958402 | carglumic acid | Chemical | LabelAnnotation | associated | |||
| PA166176020 | sodium benzoate / sodium phenylacetate | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37047726 | 2023 | NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells. | 0 |
| 37047726 | 2023 | NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells. | 0 |
| 34510628 | 2021 | Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene. | 2 |
| 34510628 | 2021 | Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene. | 2 |
| 30337552 | 2018 | N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. | 5 |
| 30337552 | 2018 | N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. | 5 |
| 27037498 | 2016 | Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. | 16 |
| 27771289 | 2016 | A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue. | 2 |
| 27037498 | 2016 | Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. | 16 |
| 27771289 | 2016 | A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue. | 2 |
| 23643712 | 2014 | Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters. | 19 |
| 23643712 | 2014 | Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters. | 19 |
| 22383952 | 2012 | Transcriptional regulation of N-acetylglutamate synthase. | 10 |
| 22383952 | 2012 | Transcriptional regulation of N-acetylglutamate synthase. | 10 |
| 19533169 | 2010 | Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. | 21 |
Citation
Dessen P
NAGS (N-acetylglutamate synthase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70677/nags-(n-acetylglutamate-synthase)
