PRDX3

Chr 10ADAR

peroxiredoxin 3

Also known as: AOP-1, AOP1, HBC189, MER5, PPPCD, PRO1748, SCAR32, SP-22

This gene encodes a mitochondrial thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides, protecting cells against oxidative stress. Mutations cause corneal dystrophy with punctiform and polychromatic pre-Descemet changes and spinocerebellar ataxia, autosomal recessive 32, affecting both ocular and cerebellar systems. The gene shows both autosomal dominant and autosomal recessive inheritance patterns depending on the associated phenotype.

OMIMResearchSummary from RefSeq, OMIM, UniProt
MultiplemechanismAD/ARLOEUF 0.882 OMIM phenotypes
Clinical SummaryPRDX3
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.88LOEUF
pLI 0.004
Z-score 1.89
OE 0.44 (0.240.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.06Z-score
OE missense 0.99 (0.861.13)
145 obs / 147.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.44 (0.240.88)
00.351.4
Missense OE0.99 (0.861.13)
00.61.4
Synonymous OE0.90
01.21.6
LoF obs/exp: 6 / 13.5Missense obs/exp: 145 / 147.0Syn Z: 0.63
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
moderatePRDX3-related cerebellar ataxiaOTHERAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.75top 25%
GOF
0.6542th %ile
LOF
0.3068th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PRDX3 · 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

No active trials found for this gene.

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Clinical Literature
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