Entity Details

Primary name NAGS
Entity type gene
Source Source Link

Details

PrimaryID162417
RefseqGeneNG_008106
SymbolNAGS
NameN-acetylglutamate synthase
Chromosome17
Location17q21.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-25
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNAGS_HUMAN

GO terms

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GOName
GO:0000050 urea cycle
GO:0004042 acetyl-CoA:L-glutamate N-acetyltransferase activity
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006526 arginine biosynthetic process
GO:0006536 glutamate metabolic process
GO:0016310 phosphorylation
GO:0034618 arginine binding
GO:0103045 methione N-acyltransferase activity

Diseases

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Disease IDSourceNameDescription
237310 OMIMN-acetylglutamate synthase deficiency (NAGSD)Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
NAGSTMEM39BHPRD, IntAct16169070 details