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Gene

NAGS

N-acetylglutamate synthase

Summary

Cytogenetic location
17q21.31
Coordinates
Chromosome 17: 44,004,622–44,009,068 (GRCh38)
Exons
7 exons across 4.4 kb
Protein
534 amino acids
Also known as
AGAS, ARGA, NAT7
MANE Select transcript
ENST00000293404.8NM_153006.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Urea Cycle Disorder

    • A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Nitrogen scavenger therapy (sodium benzoate, glycerol phenylbutyrate/Ravicti); protein-restricted diet with essential amino acid supplementation; emergency hyperammonemia protocols; liver transplantation (curative); mRNA therapy trials for OTC; carglumic acid for NAGS deficiency

How NAGS is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 17, with a bracket where NAGS sits. NAGS and 27 genes near it on chromosome 17, from 43,506,845 to 44,506,844.Chromosome 1717q21.31p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.343.6 Mb43.8 Mb44 Mb44.2 Mb44.4 MbDHX8: 43,483,865–43,610,338, forward strandDHX8ETV4: 43,527,841–43,579,620, reverse strandETV4MEOX1: 43,640,072–43,661,929, reverse strandMEOX1SOST: 43,753,738–43,758,791, reverse strandSOSTDUSP3: 43,763,629–43,779,000, reverse strandDUSP3CFAP97D1: 43,780,426–43,787,620, forward strandCFAP97D1MPP3: 43,800,795–43,833,203, reverse strandMPP3CD300LG: 43,847,114–43,863,639, forward strandCD300LGMPP2: 43,875,352–43,909,711, reverse strandMPP2PPY: 43,940,804–43,952,444, reverse strandPPYPYY: 43,952,733–44,004,469, reverse strandPYYNAGS: 44,004,622–44,009,068, forward strandNAGSTMEM101: 44,008,986–44,023,946, reverse strandTMEM101LSM12: 44,033,931–44,067,619, reverse strandLSM12G6PC3: 44,070,620–44,094,678, forward strandG6PC3HDAC5: 44,076,746–44,123,702, reverse strandHDAC5HROB: 44,141,903–44,162,481, forward strandHROBASB16: 44,170,447–44,179,373, forward strandASB16TMUB2: 44,186,955–44,191,931, forward strandTMUB2ATXN7L3: 44,191,804–44,200,961, reverse strandATXN7L3UBTF: 44,205,033–44,221,626, reverse strandUBTFSLC4A1: 44,248,390–44,268,162, reverse strandSLC4A1RUNDC3A: 44,307,945–44,318,675, forward strandRUNDC3ASLC25A39: 44,316,821–44,326,639, reverse strandSLC25A39GRN: 44,345,108–44,353,106, forward strandGRNFAM171A2: 44,353,215–44,363,875, reverse strandFAM171A2ITGA2B: 44,372,177–44,389,649, reverse strandITGA2BGPATCH8: 44,395,281–44,503,639, reverse strandGPATCH8Diagram of NAGS: 7 exons on the forward strand of chromosome 17Exon 1: 26 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 3: 13 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 5: 9 known disease-causing sitesExon 6: 11 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 1: 44,004,622–44,005,089, 468 basesExon 2: 44,005,637–44,005,911, 275 basesExon 3: 44,006,024–44,006,237, 214 basesExon 4: 44,006,529–44,006,709, 181 basesExon 5: 44,007,323–44,007,494, 172 basesExon 6: 44,007,591–44,007,773, 183 basesExon 7: 44,008,448–44,009,068, 621 bases12345675′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.1 kb of the gene's 4.4 kb; 1,605 of those bases code for the protein.

How a genome test reads NAGS

96

positions in NAGS where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 4.4 kb of NAGS, introns included, not only the 2.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). NAGS gene: N-acetylglutamate synthase. Retrieved 16 October 2026, from https://dantelabs.com/genes/nags

Vancouver

Dante Labs. NAGS gene: N-acetylglutamate synthase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/nags

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