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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
OXR1
oxidation resistance 1
Chromosome 8 Β· 8q23.1
NCBI Gene: 55074Ensembl: ENSG00000164830.19HGNC: HGNC:15822UniProt: Q8N573
47PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionresponse to oxidative stressnucleusisolated cerebellar hypoplasia/agenesisalcohol drinkingandrogenetic alopeciaspinal cord injury
✦AI Summary

OXR1 (oxidation resistance 1) is a highly conserved gene encoding a protein that protects cells from oxidative damage through multiple mechanisms 1. The primary function involves maintaining mitochondrial DNA integrity and counteracting hydrogen peroxide-induced oxidative stress by regulating antioxidant pathways involving p21, leading to upregulation of antioxidant genes GPX2 and HO-1 1. OXR1 localizes to both mitochondria and nucleus, and is induced by heat and oxidative stress 2. Mechanistically, OXR1 regulates V-ATPase activity at the Golgi apparatus and trans-Golgi network through direct binding to its catalytic subunit, maintaining optimal pH for protein glycosylation 3. Additionally, OXR1 maintains retromer function, which is critical for proper protein trafficking and preventing endolysosomal defects 4. OXR1 also influences histone arginine methylation by activating protein arginine methyltransferases during neurodevelopment 5. Disease-wise, loss-of-function mutations cause cerebellar atrophy, early-onset epilepsy, developmental delay, and cognitive disabilities 5. Clinically, OXR1 expression declines with age and is associated with neurological diseases, making it a potential therapeutic target for neurodegeneration and age-related disorders 4.

Sources cited
1
OXR1 maintains mitochondrial DNA integrity and regulates antioxidant pathways via p21 signaling
PMID: 25236744
2
OXR1 localizes to mitochondria and is induced by oxidative stress
PMID: 15060142
3
OXR1 regulates V-ATPase activity at Golgi/TGN for optimal protein glycosylation
PMID: 40445757
4
OXR1 maintains retromer function and prevents endolysosomal defects
PMID: 38212606
5
Loss-of-function mutations cause cerebellar atrophy, epilepsy, and developmental delay; OXR1 regulates histone arginine methylation
PMID: 37773136
Disease Associationsβ“˜21
isolated cerebellar hypoplasia/agenesisOpen Targets
0.65Moderate
alcohol drinkingOpen Targets
0.32Weak
androgenetic alopeciaOpen Targets
0.30Weak
spinal cord injuryOpen Targets
0.29Weak
DNA methylationOpen Targets
0.29Weak
breast cancerOpen Targets
0.29Weak
inborn disorder of amino acid metabolismOpen Targets
0.28Weak
gastroparesisOpen Targets
0.27Weak
Hearing impairmentOpen Targets
0.26Weak
ovarian neoplasmOpen Targets
0.22Weak
adverse effectOpen Targets
0.21Weak
fungal lung infectious diseaseOpen Targets
0.20Weak
pneumoniaOpen Targets
0.20Weak
aortic stenosisOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
insomniaOpen Targets
0.19Weak
response to stimulusOpen Targets
0.19Weak
sensorineural hearing lossOpen Targets
0.19Weak
Sensorineural hearing impairmentOpen Targets
0.18Weak
schizophreniaOpen Targets
0.17Weak
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayUniProt
Pathogenic Variants2
NM_001198533.2(OXR1):c.1100C>G (p.Ser367Ter)Pathogenic
Congenital cerebellar hypoplasia
β˜†β˜†β˜†β˜†2020β†’ Residue 367
NM_001198533.2(OXR1):c.2163+1G>TPathogenic
Congenital cerebellar hypoplasia
β˜†β˜†β˜†β˜†2020
View on ClinVar β†—
Related Genes
TLDC2Shared pathway100%HCRTProtein interaction93%HCRTR1Protein interaction93%NCOA7Shared pathway68%SELENOPShared pathway50%MSRB3Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Heart
48%
Bone Marrow
30%
Ovary
27%
Liver
21%
Lung
20%
Gene Interaction Network
Click a node to explore
OXR1TLDC2HCRTHCRTR1NCOA7SELENOPMSRB3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8N573
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.48Moderately Constrained
pLIβ“˜
0.99Intolerant
Observed/Expected LoF0.29 [0.18–0.48]
RankingsWhere OXR1 stands among ~20K protein-coding genes
  • #9,249of 20,598
    Most Researched47
  • #4,448of 5,498
    Most Pathogenic Variants2
  • #2,833of 17,882
    Most Constrained (LOEUF)0.48 Β· top quartile
Genes detectedOXR1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Lemborexant: First Approval.
PMID: 32096020
Drugs Β· 2020
1.00
2
OXR1 maintains the retromer to delay brain aging under dietary restriction.
PMID: 38212606
Nat Commun Β· 2024
0.90
3
Oxr1 and Ncoa7 regulate V-ATPase to achieve optimal pH for glycosylation within the Golgi apparatus and trans-Golgi network.
PMID: 40445757
Proc Natl Acad Sci U S A Β· 2025
0.80
4
Human OXR1 maintains mitochondrial DNA integrity and counteracts hydrogen peroxide-induced oxidative stress by regulating antioxidant pathways involving p21.
PMID: 25236744
Free Radic Biol Med Β· 2014
0.70
5
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.
PMID: 37773136
Genome Biol Β· 2023
0.60