PRX

Chr 19ARAD

periaxin

ENSG00000105227UniProt: Q9BXM0

Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphology

Primary Disease Associations & Inheritance

Charcot-Marie-Tooth disease, type 4FMIM #614895
AR
Dejerine-Sottas diseaseMIM #145900
ADAR
UniProtDejerine-Sottas syndrome
0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— PRX
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

clinvarCount: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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.
0.98LOEUF
pLI 0.000
Z-score 1.63
OE 0.71 (0.53–0.98)
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.
-0.13Z-score
OE missense 1.01 (0.96–1.07)
862 obs / 851.2 exp
Tolerant

Tolerant to missense variation

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.0.71 (0.53–0.98)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.01 (0.96–1.07)
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.1.00
0≤1.21.6
LoF obs/exp: 27 / 37.9Missense obs/exp: 862 / 851.2Syn Z: -0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRX · 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
PERIAXIN; PRX
MIM #605725 · *

Charcot-Marie-Tooth disease, type 4F

MIM #614895

Molecular basis of disorder known

Autosomal recessive

Dejerine-Sottas disease

MIM #145900

Molecular basis of disorder known

Autosomal dominantAutosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.
Reis LM et al.·Invest Ophthalmol Vis Sci
2025🔓 Open Access
Development of peroxidase-modified zeolite carbon paste electrodes (Prx-Zeo/CPE) for the biosensing of hydroquinone in pharmaceutical skin cream.
Martins RC et al.·Bioelectrochemistry
2026
Pc-prx 6 plays an important role in the regulation of antibacterial innate immune in the hepatopancreas of Procambarus clarkii due to its potential antioxidant capacity.
Zhang M et al.·Fish Shellfish Immunol
2025
Peroxiredoxin 4 (Prx 4) plays important gene expression regulatory roles in antimicrobial innate immune by regulating hydrogen peroxide (H2O2) in the hepatopancreas of freshwater crayfish Procambarus clarkii.
Wen J et al.·Dev Comp Immunol
2025
Inflammatory Mediators Related to Vascular Dysfunction are Linked to ICP, PRx, and CPP Following Human Severe Traumatic Brain Injury.
Smith CA et al.·J Neurotrauma
2025
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Breast AdenocarcinomaEstrogen Receptor NegativeHER2/Neu Negative

Doxorubicin Hydrochloride and Cyclophosphamide Followed by Paclitaxel With or Without Carboplatin in Treating Patients With Triple-Negative Breast Cancer

ACTIVE NOT RECRUITING
NCT02488967Phase PHASE3NRG OncologyStarted 2015-07-26
CarboplatinCyclophosphamideDoxorubicin Hydrochloride

External Resources

Links to major genomics databases and tools