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Gene

ARG1

arginase 1

Summary

Cytogenetic location
6q23.2
Coordinates
Chromosome 6: 131,573,226–131,584,329 (GRCh38)
Exons
8 exons across 11.1 kb
Protein
322 amino acids
MANE Select transcript
ENST00000368087.8NM_000045.4
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
      • 6 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 ARG1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 6, with a bracket where ARG1 sits. ARG1 and 7 genes near it on chromosome 6, from 131,078,778 to 132,078,777.Chromosome 66q23.2p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27131.2 Mb131.4 Mb131.6 Mb131.8 Mb132 MbAKAP7: 131,135,216–131,283,535, forward strandAKAP7MED23: 131,572,244–131,628,313, reverse strandMED23ARG1: 131,573,226–131,584,329, forward strandARG1ENPP3: 131,628,292–131,749,043, forward strandENPP3OR2A4: 131,699,644–131,701,401, reverse strandOR2A4CTAGE9: 131,708,441–131,711,017, reverse strandCTAGE9ENPP1: 131,807,993–131,895,160, forward strandENPP1CCN2: 131,948,176–131,951,456, reverse strandCCN2Diagram of ARG1: 8 exons on the forward strand of chromosome 6Exon 1: 8 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 3: 17 known disease-causing sitesExon 4: 27 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 6: 10 known disease-causing sitesExon 7: 11 known disease-causing sitesExon 8: 17 known disease-causing sitesExon 1: 131,573,226–131,573,339, 114 basesExon 2: 131,576,663–131,576,735, 73 basesExon 3: 131,579,111–131,579,285, 175 basesExon 4: 131,581,219–131,581,378, 160 basesExon 5: 131,582,621–131,582,715, 95 basesExon 6: 131,583,060–131,583,164, 105 basesExon 7: 131,583,355–131,583,491, 137 basesExon 8: 131,583,742–131,584,329, 588 bases123456785′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 1.4 kb of the gene's 11.1 kb; 969 of those bases code for the protein.

How a genome test reads ARG1

124

positions in ARG1 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 11.1 kb of ARG1, introns included, not only the 1.4 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.). ARG1 gene: arginase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/arg1

Vancouver

Dante Labs. ARG1 gene: arginase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/arg1

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