Property Summary

NCBI Gene PubMed Count 23
Grant Count 89
R01 Count 41
Funding $10,431,827.88
PubMed Score 237.21
PubTator Score 75.20

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q8N159 B2RAZ9 Q8IWR4
Symbols AGAS
ARGA

Gene

PDB

4K30  

Gene RIF (18)

PMID Text
23643712 Data indicate the formation of alternative N-acylglutamates by N-acetylglutamate synthase (NAGS).
22383952 Sp1, CREB, HNF-1, and NF-Y, known to be responsive to hormones and diet, regulate NAGS transcription
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20303810 NAGS deficiency in humans leads to hyperammonemia and can be primary, due to mutations in the NAGS gene or secondary due to other mitochondrial aberrations that interfere with the normal function of the same enzyme.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19533169 After the human NAGS gene was identified, mutation analysis revealed that the older sibling on NCG therapy was homozygous for a 971G>A (W324X) mutation.
17703373 Report patient with OCTN2 mutations/deficiency and N-acetylglutamate synthase deficiency.
17510757 case with genetically verified NAGS deficiency and neonatal onset of severe hyperammonaemia
17421020 This is the first comprehensive report of 21 mutations that cause NAGS deficiency and of commonly found polymorphisms in the NAGS gene.
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AA Sequence

MATALMAVVLRAAAVAPRLRGRGGTGGARRLSCGARRRAARGTSPGRRLSTAWSQPQPPPEEYAGADDVS      1 - 70
QSPVAEEPSWVPSPRPPVPHESPEPPSGRSLVQRDIQAFLNQCGASPGEARHWLTQFQTCHHSADKPFAV     71 - 140
IEVDEEVLKCQQGVSSLAFALAFLQRMDMKPLVVLGLPAPTAPSGCLSFWEAKAQLAKSCKVLVDALRHN    141 - 210
AAAAVPFFGGGSVLRAAEPAPHASYGGIVSVETDLLQWCLESGSIPILCPIGETAARRSVLLDSLEVTAS    211 - 280
LAKALRPTKIIFLNNTGGLRDSSHKVLSNVNLPADLDLVCNAEWVSTKERQQMRLIVDVLSRLPHHSSAV    281 - 350
ITAASTLLTELFSNKGSGTLFKNAERMLRVRSLDKLDQGRLVDLVNASFGKKLRDDYLASLRPRLHSIYV    351 - 420
SEGYNAAAILTMEPVLGGTPYLDKFVVSSSRQGQGSGQMLWECLRRDLQTLFWRSRVTNPINPWYFKHSD    421 - 490
GSFSNKQWIFFWFGLADIRDSYELVNHAKGLPDSFHKPASDPGS                              491 - 534
//

Text Mined References (23)

PMID Year Title
23894642 2013 Crystal structure of the N-acetyltransferase domain of human N-acetyl-L-glutamate synthase in complex with N-acetyl-L-glutamate provides insights into its catalytic and regulatory mechanisms.
23643712 2014 Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters.
22383952 2012 Transcriptional regulation of N-acetylglutamate synthase.
21757002 2011 The nuclear receptor FXR regulates hepatic transport and metabolism of glutamine and glutamate.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20303810 2010 N-acetylglutamate synthase: structure, function and defects.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19533169 2010 Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.
17703373 2007 Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.
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