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Gene

OAT

ornithine aminotransferase

Summary

Cytogenetic location
10q26.13
Coordinates
Chromosome 10: 124,397,303–124,418,923 (GRCh38)
Exons
10 exons across 21.6 kb
Protein
439 amino acids
Inheritance
Autosomal recessive
Also known as
HOGA
MANE Select transcript
ENST00000368845.6NM_000274.4
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

  • Gyrate Atrophy of the Choroid and Retina

    • Gyrate Atrophy (Ornithine Aminotransferase Deficiency)Autosomal recessive

      A metabolic condition caused by changes in both copies of the OAT gene, leading to raised ornithine and progressive patches of chorioretinal atrophy.

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

      An arginine-restricted diet, and vitamin B6 in responsive people, can lower ornithine and slow retinal degeneration.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How OAT is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where OAT sits. OAT and 8 genes near it on chromosome 10, from 123,908,113 to 124,908,112.Chromosome 1010q26.13p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.3124 Mb124.2 Mb124.4 Mb124.6 Mb124.8 MbCPXM2: 123,706,207–123,940,267, reverse strandCPXM2CHST15: 124,006,115–124,093,698, reverse strandCHST15OAT: 124,397,303–124,418,923, reverse strandOATNKX1-2: 124,445,243–124,450,069, reverse strandNKX1-2LHPP: 124,461,789–124,617,888, forward strandLHPP: 124,617,080–124,791,727, reverse strandFAM53B: 124,619,292–124,744,475, reverse strandFAM53BEEF1AKMT2: 124,748,149–124,791,916, reverse strandEEF1AKMT2ABRAXAS2: 124,801,785–124,836,670, forward strandABRAXAS2Diagram of OAT: 10 exons on the reverse strand of chromosome 10Exon 10: 14 known disease-causing sitesExon 9: 9 known disease-causing sitesExon 8: 10 known disease-causing sitesExon 7: 19 known disease-causing sitesExon 6: 16 known disease-causing sitesExon 5: 13 known disease-causing sitesExon 4: 12 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 2: 12 known disease-causing sitesExon 10: 124,397,303–124,398,102, 800 basesExon 9: 124,400,840–124,400,984, 145 basesExon 8: 124,401,726–124,401,839, 114 basesExon 7: 124,402,927–124,403,055, 129 basesExon 6: 124,403,798–124,403,920, 123 basesExon 5: 124,405,436–124,405,563, 128 basesExon 4: 124,408,542–124,408,637, 96 basesExon 3: 124,408,741–124,408,965, 225 basesExon 2: 124,411,973–124,412,200, 228 basesExon 1: 124,418,873–124,418,923, 51 bases10864215′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 kb of the gene's 21.6 kb; 1,320 of those bases code for the protein.

How a genome test reads OAT

133

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

1 of them (0.8%) falls in a region short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 21.6 kb of OAT, introns included, not only the 2 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.). OAT gene: ornithine aminotransferase. Retrieved 16 October 2026, from https://dantelabs.com/genes/oat

Vancouver

Dante Labs. OAT gene: ornithine aminotransferase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/oat

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