PRXL2B
Chr 1peroxiredoxin like 2B
Also known as: C1orf93, FAM213B, PM/PGFS
The protein catalyzes the reduction of prostaglandin H2 to prostaglandin F2alpha and reduces prostamide H2 to prostamide F2alpha using NADPH as a proton donor. The gene is not currently associated with any established Mendelian diseases in pediatric neurology. This gene shows low constraint to loss-of-function variation, suggesting tolerance to functional disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
208 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 116 | 0 | 116 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 1 | 39 | 27 | 0 | 67 |
Likely Benign | 0 | 7 | 1 | 1 | 9 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 1 | 46 | 147 | 1 | 195 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PRXL2B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools