OAT
Chr 10ARornithine aminotransferase
Also known as: GACR, HOGA, OATASE, OKT
The mitochondrial enzyme ornithine aminotransferase catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate, serving as a key enzyme in the pathway converting arginine and ornithine into the neurotransmitters glutamate and GABA. Mutations cause gyrate atrophy of choroid and retina with or without ornithinemia, an autosomal recessive eye disease that primarily affects the posterior segment of the eye. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its autosomal recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
opentargets: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 17 | 1 | 19 | 0 | 37 |
Likely Pathogenic | 44 | 5 | 3 | 0 | 52 |
VUS | 2 | 132 | 7 | 4 | 145 |
Likely Benign | 0 | 3 | 96 | 157 | 256 |
Benign | 0 | 0 | 3 | 0 | 3 |
Conflicting | — | 3 | |||
| Total | 63 | 141 | 128 | 161 | 496 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OAT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools