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NAGS variant dimers [mitochondrial matrix]
Stable Identifier
R-HSA-9955673
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
mitochondrial matrix
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of the urea cycle (Homo sapiens)
NAGS variants cause NAGS deficiency (Homo sapiens)
NAGS variants don't synthesize N-acetylglutamate (Homo sapiens)
NAGS variant dimers [mitochondrial matrix] (Homo sapiens)
Participants
members
NAGS A279T dimer [mitochondrial matrix]
(Homo sapiens)
NAGS L430P dimer [mitochondrial matrix]
(Homo sapiens)
NAGS E433D dimer [mitochondrial matrix]
(Homo sapiens)
NAGS W484R dimer [mitochondrial matrix]
(Homo sapiens)
candidates
NAGS L312P dimer [mitochondrial matrix]
(Homo sapiens)
NAGS W324* dimer [mitochondrial matrix]
(Homo sapiens)
NAGS S410P dimer [mitochondrial matrix]
(Homo sapiens)
NAGS T431I dimer [mitochondrial matrix]
(Homo sapiens)
NAGS R509Q dimer [mitochondrial matrix]
(Homo sapiens)
NAGS A518T dimer [mitochondrial matrix]
(Homo sapiens)
NAGS C200R dimer [mitochondrial matrix]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
N-acetylglutamate synthase deficiency
DOID:0112258
NAG synthetase deficiency, NAGS deficiency, N-acetylglutamate synthetase deficiency, N-acetyl glutamate synthetase deficiency, hyperammonemia due to N-acetylglutamate synthase deficiency
Cross References
Mondo
0009377
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