PRDX1

Chr 1AR

peroxiredoxin 1

Also known as: MSP23, NKEF-A, NKEFA, PAG, PAGA, PAGB, PRX1, PRXI

NCBI Gene: 5052ENSG00000117450UniProt: Q06830

This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011]

Primary Disease Associations & Inheritance

Methylmalonic aciduria and homocystinuria, cblC type, digenicMIM #277400
AR
96
ClinVar variants
10
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— PRDX1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
10 Pathogenic / Likely Pathogenic· 50 VUS of 96 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

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.
1.91LOEUF
pLI 0.000
Z-score -1.08
OE 1.40 (0.88–1.91)
Tolerant

Highly tolerant — LoF variants common in population

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.
0.20Z-score
OE missense 0.95 (0.81–1.11)
103 obs / 108.9 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.1.40 (0.88–1.91)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.95 (0.81–1.11)
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.1.03
0≤1.21.6
LoF obs/exp: 12 / 8.6Missense obs/exp: 103 / 108.9Syn Z: -0.13

ClinVar Variant Classifications

96 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
Likely Pathogenic2
VUS50
Likely Benign24
Benign12
8
Pathogenic
2
Likely Pathogenic
50
VUS
24
Likely Benign
12
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
0
6
0
8
Likely Pathogenic
0
0
2
0
2
VUS
2
27
20
1
50
Likely Benign
0
0
10
14
24
Benign
0
0
11
1
12
Total427491696

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

View in ClinVar →

Protein Context — Lollipop Plot

PRDX1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
PEROXIREDOXIN 1; PRDX1
MIM #176763 · *

Methylmalonic aciduria and homocystinuria, cblC type, digenic

MIM #277400

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — PRDX1
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Celastrol suppresses colorectal cancer via covalent targeting peroxiredoxin 1.
Xu H et al.·Signal Transduct Target Ther
2023
Single-Cell Analyses of the Oral Mucosa Reveal Immune Cell Signatures.
Liu Y et al.·J Dent Res
2023
Loss of the stress sensor GADD45A promotes stem cell activity and ferroptosis resistance in LGR4/HOXA9-dependent AML.
Hassan N et al.·Blood
2024
Identification of ferroptosis-related genes associated with diffuse large B-cell lymphoma via bioinformatics and machine learning approaches.
Jia Z et al.·Int J Biol Macromol
2024
NTRK1-rearranged histiocytosis: clinicopathologic and molecular features.
Fragneau R et al.·Blood Adv
2025
Machine learning-based diagnostic and prognostic models for breast cancer: a new frontier on the clinical application of natural killer cell-related gene signatures in precision medicine.
Fang Y et al.·Front Immunol
2025Functional
PRDX1 protects ATM from arsenite-induced proteotoxicity and maintains its stability during DNA damage signaling.
Ali R et al.·Oncotarget
2025
Targeting PRDX1 impairs acute myeloid leukemic blasts and stem cells by disrupting redox homeostasis.
Li Z et al.·Cell Death Dis
2025
Guanine Nucleotide-Binding Protein G(i) Subunit Alpha 2 Exacerbates NASH Progression by Regulating Peroxiredoxin 1-Related Inflammation and Lipophagy.
Zhang Z et al.·Hepatology
2021
Lactylation modulation identifies key biomarkers and therapeutic targets in KMT2A-rearranged AML.
Liu D et al.·Sci Rep
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
IFI44 Promotes Clear Cell Renal Cell Carcinoma Progression via PRDX1 and Predicts Poor Prognosis.
Xu Y et al.·Research (Wash D C)
2026🔓 Open Access
OTUD7B attenuates renal fibrosis by regulating PRDX1 protein stability.
Xiong Y et al.·J Adv Res
2026
Ginsenoside Rg1 mitigates sepsis-associated acute respiratory distress syndrome by promoting autophagy through the Prdx1-PTEN/PI3K/AKT pathway.
Xue X et al.·Phytomedicine
2026
Ginsenoside Rg5 Targets PRDX1 to Disrupt Redox Homeostasis and Induce Mitochondria-Dependent Apoptosis in Human Hepatocellular Carcinoma HepG2 Cells.
Ye HL et al.·Molecules
2026🔓 Open Access
An elastase-responsive "plug-and-play" quercetin-loaded engineered extracellular vesicle platform anchored with anti-PRDX1 antibody for severe acute pancreatitis therapy.
Xu W et al.·J Control Release
2026
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Rare DiseasesAlbinismIntellectual Disability

Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases.

NOT YET RECRUITING
NCT07400913University Hospital, BordeauxStarted 2026-02
Long-read sequencing

External Resources

Links to major genomics databases and tools