OXR1

Chr 8AR

oxidation resistance 1

Also known as: CHEGDD, Nbla00307, TLDC3

NCBI Gene: 55074 ENSG00000164830 UniProt: O43613 OMIM: 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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.341 OMIM phenotype

Clinical Summary— OXR1

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.84) — some intolerance to loss-of-function variants.

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ClinVar Variants

5 unique Pathogenic / Likely Pathogenic· 119 VUS of 183 total submissions

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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 OE?0.20 (0.12–0.34)

0≤0.351.4

Missense OE?0.86 (0.79–0.94)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 9 / 45.7Missense obs/exp: 380 / 440.0Syn Z: -0.84

ClinVar Variant Classifications

183 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2

Likely Pathogenic3

VUS119

Likely Benign21

Benign2

Conflicting3

Pathogenic

Likely Pathogenic

119

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	2	0	0	0	2
Likely Pathogenic	3	0	0	0	3
VUS	2	113	4	0	119
Likely Benign	1	6	1	13	21
Benign	0	0	0	2	2
Conflicting	—				3
Total	8	119	5	15	150

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

39 pathogenic / likely-pathogenic (of 47) ClinVar copy-number / structural variants overlap OXR1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →