OXR1

Chr 8

oxidation resistance 1

Also known as: CHEGDD, Nbla00307, TLDC3

NCBI Gene: 55074 ENSG00000164830 UniProt: O43613

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.

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.34

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429