OXR1

Chr 8AR

oxidation resistance 1

Also known as: CHEGDD, Nbla00307, TLDC3

NCBI Gene: 55074ENSG00000164830UniProt: O43613OMIM: 605609

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.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.341 OMIM phenotype
Clinical Summary— OXR1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.84) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.34LOEUF
pLI 0.841
Z-score 5.03
OE 0.20 (0.12–0.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.02Z-score
OE missense 0.86 (0.79–0.94)
380 obs / 440.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.20 (0.12–0.34)
0≤0.351.4
Missense OE0.86 (0.79–0.94)
0≤0.61.4
Synonymous OE1.09
0≤1.21.6
LoF obs/exp: 9 / 45.7Missense obs/exp: 380 / 440.0Syn Z: -0.84

ClinVar Variant Classifications

0 submitted variants in ClinVar

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations.
Finelli MJ et al.·Hum Mol Genet
2015
A susceptibility gene signature for ERBB2-driven mammary tumour development and metastasis in collaborative cross mice.
Yang H et al.·EBioMedicine
2024
A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish.
Li Y et al.·Hum Mol Genet
2023Case report
Oxr1a prevents the premature ovarian failure by regulating oxidative stress and mitochondrial function in zebrafish.
Xu H et al.·Free Radic Biol Med
2023Functional
Bromocriptine-QR Therapy Reduces Sympathetic Tone and Ameliorates a Pro-Oxidative/Pro-Inflammatory Phenotype in Peripheral Blood Mononuclear Cells and Plasma of Type 2 Diabetes Subjects.
Cincotta AH et al.·Int J Mol Sci
2022
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients