NAGS

Chr 17q21.31

N-acetylglutamate synthase

Aliases:: AGAS, ARGA, NAT7
MANE:: ENST00000293404.8

OMIM: 608300 ↗NCBI: 162417 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

NAGS · Q8N159

v62025-08-01

Predicted Aligned Error matrix for NAGS — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.8/ 100

Confident

534 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)23%
Low(50–70)4%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hyperammonemia due to N-acetylglutamate synthase deficiency
0.84
Hyperammonemia due to N-acetylglutamate synthetase deficiency
0.81
hereditary disease
0.50
neurodegenerative disease
0.42
Esophageal atresia
0.11
pyloric stenosis
0.11
glioblastoma
0.08
gastric adenocarcinoma
0.07
lung adenocarcinoma
0.07
metabolic syndrome
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

N-acetylglutamate synthase, mitochondrial

Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPS1) activity