PRDX3

Chr 10ADAR

peroxiredoxin 3

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

NCBI Gene: 10935ENSG00000165672UniProt: P30048

This gene encodes a mitochondrial protein with antioxidant function. The protein is similar to the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase, and it can rescue bacterial resistance to alkylhydroperoxide in E. coli that lack the C22 subunit. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologs suggest that these genes consist of a family that is responsible for the regulation of cellular proliferation, differentiation and antioxidant functions. This family member can protect cells from oxidative stress, and it can promote cell survival in prostate cancer. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 3, 13 and 22. [provided by RefSeq, Oct 2014]

Primary Disease Associations & Inheritance

Corneal dystrophy, punctiform and polychromatic pre-DescemetMIM #619871
AD
Spinocerebellar ataxia, autosomal recessive 32MIM #619862
AR
95
ClinVar variants
38
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— PRDX3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
38 Pathogenic / Likely Pathogenic· 52 VUS of 95 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.88LOEUF
pLI 0.004
Z-score 1.89
OE 0.44 (0.24–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.06Z-score
OE missense 0.99 (0.86–1.13)
145 obs / 147.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.44 (0.24–0.88)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.99 (0.86–1.13)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.90
0≤1.21.6
LoF obs/exp: 6 / 13.5Missense obs/exp: 145 / 147.0Syn Z: 0.63

ClinVar Variant Classifications

95 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic32
Likely Pathogenic6
VUS52
Likely Benign5
32
Pathogenic
6
Likely Pathogenic
52
VUS
5
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
3
27
0
32
Likely Pathogenic
1
0
5
0
6
VUS
1
42
9
0
52
Likely Benign
0
1
1
3
5
Benign
0
0
0
0
0
Total44642395

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

View 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.

Gene2Phenotype Curations

PRDX3-related cerebellar ataxia

moderate
ARUndeterminedAbsent Gene Product, Altered Gene Product Structure, Decreased Gene Product Level
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
PEROXIREDOXIN 3; PRDX3
MIM #604769 · *

Corneal dystrophy, punctiform and polychromatic pre-Descemet

MIM #619871

Molecular basis of disorder known

Autosomal dominant

Spinocerebellar ataxia, autosomal recessive 32

MIM #619862

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
IC3D Classification of Corneal Dystrophies-Edition 3.
Weiss JS et al.·Cornea
2024
Icariin alleviates uveitis by targeting peroxiredoxin 3 to modulate retinal microglia M1/M2 phenotypic polarization.
Wang G et al.·Redox Biol
2022
SIRT4-Mediated Deacetylation of PRDX3 Attenuates Liver Ischemia Reperfusion Injury by Suppressing Ferroptosis.
Yu Q et al.·Int J Biol Sci
2025
Empagliflozin attenuates renal damage in diabetic nephropathy by modulating mitochondrial quality control via Prdx3-PINK1 pathway.
Guo C et al.·Biochem Pharmacol
2025
PRDX3 Promotes Lymph Node Metastasis in Cervical Cancer by Activating NF-κB Signaling Pathway and Anoikis Resistance.
Wen W et al.·Int J Med Sci
2025
PRDX3 promotes nasopharyngeal carcinoma tumor growth by regulating PINK1/Parkin pathway-dependent lipid peroxidation and mitochondrial dysfunction.
Qiang H et al.·Exp Cell Res
2025
Transcriptomics-based identification of lysine crotonylation-related biomarkers in pre-eclampsia.
Li J et al.·BMC Pregnancy Childbirth
2025
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.
Efthymiou S et al.·Ann Clin Transl Neurol
2023
Antioxidant PRDX3 gene therapy protects brain cells and prevents neurodegeneration in an animal model of Parkinson's disease.
Villa-Cedillo SA et al.·Neuropeptides
2025Functional
Confirmation of PRDX3 c.568G>C as the Genetic Basis of Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy.
Choo CH et al.·Cornea
2022
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Membrane-translocated SO₂/₃-PRDX3 disrupts cystine uptake and GPX4 activity: A pivotal mechanism of boron-induced renal ferroptosis in broiler.
Li Y et al.·Ecotoxicol Environ Saf
2026Functional
A homozygous PRDX3 pathogenic variant in a paediatric case of spinocerebellar ataxia type 32.
Yang J et al.·Neurogenetics
2025🔓 Open Access
PRDX5 Regulates Mitochondrial Function and Nuclear Spreading in Myogenesis and Acts With PRDX3 to Delay Muscle Aging.
Suh J et al.·J Cachexia Sarcopenia Muscle
2025🔓 Open Access
Atractylodin inhibits ferroptosis in sepsis‑induced acute gastrointestinal injury via SIRT3/PRDX3.
Hu YX et al.·Mol Med Rep
2025🔓 Open Access
Lycorine ameliorates astrocytic apoptosis and inflammation in cerebral ischemia/reperfusion injury via inhibiting mitochondrial dysfunction via SIRT1-mediated SIRT3/PRDX3 activation.
Ding Y et al.·Pathol Res Pract
2025
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools