OXR1
Chr 8ARoxidation resistance 1
Also known as: CHEGDD, Nbla00307, TLDC3
The OXR1 protein is an oxidoreductase that functions in the cellular response to oxidative stress and is located in mitochondria. Mutations cause autosomal recessive cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay. This gene is highly constrained against loss-of-function variants (pLI 0.84, LOEUF 0.34), suggesting that functional copies are critical for normal development.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
224 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 | 1 | 0 | 40 | 0 | 41 |
Likely Pathogenic | 3 | 0 | 0 | 0 | 3 |
VUS | 2 | 109 | 10 | 0 | 121 |
Likely Benign | 1 | 5 | 2 | 12 | 20 |
Benign | 0 | 0 | 1 | 2 | 3 |
Conflicting | — | 3 | |||
| Total | 7 | 114 | 53 | 14 | 191 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OXR1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools