OXR1 Chromosome 8
Oxidation resistance 1
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What This Gene Does
Predicted to enable oxidoreductase activity. Predicted to be involved in response to oxidative stress. Predicted to act upstream of or within several processes, including adult walking behavior; negative regulation of cellular response to oxidative stress; and negative regulation of peptidyl-cysteine S-nitrosylation. Located in mitochondrion. Implicated in cerebellar hyplasia/atrophy, epilepsy, and global developmental delay. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
TLDc domain containing
Locus Type
gene with protein product
Location
8q23.1
Ensembl
ENSG00000164830
Associated Conditions (4)
Congenital cerebellar hypoplasia
OXR1-related disorder
Inborn genetic diseases
Hearing impairment
Key Variants
RS145739822
Conflicting classifications of pathogenicity
Congenital cerebellar hypoplasia, OXR1-related disorder, Congenital cerebellar hypoplasia
Health Risk
RS200091052
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200863692
Conflicting classifications of pathogenicity
Hearing impairment, Hearing impairment
Health Risk
RS1587174071
Pathogenic
Congenital cerebellar hypoplasia, Congenital cerebellar hypoplasia
Health Risk
RS1587302415
Pathogenic
Congenital cerebellar hypoplasia, Congenital cerebellar hypoplasia
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145739822 | Health Risk | Conflicting classifications of pathogenicity | Congenital cerebellar hypoplasia, OXR1-related disorder, Congenital cerebellar hypoplasia |
| RS200091052 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200863692 | Health Risk | Conflicting classifications of pathogenicity | Hearing impairment, Hearing impairment |
| RS1587174071 | Health Risk | Pathogenic | Congenital cerebellar hypoplasia, Congenital cerebellar hypoplasia |
| RS1587302415 | Health Risk | Pathogenic | Congenital cerebellar hypoplasia, Congenital cerebellar hypoplasia |