PEX11B
Chr 1ARperoxisomal biogenesis factor 11 beta
Also known as: PEX11-BETA, PEX11beta, PEX14B
The protein facilitates peroxisomal proliferation by promoting membrane protrusion and elongation on the peroxisomal surface and recruiting dynamin-related GTPase to regulate peroxisome division. Mutations cause peroxisome biogenesis disorder 14B, inherited in an autosomal recessive pattern. The gene shows relatively low constraint to loss-of-function variants (pLI 0.0001, LOEUF 1.08), suggesting the disorder requires biallelic loss of function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
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
477 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 | 3 | 0 | 115 | 0 | 118 |
Likely Pathogenic | 10 | 1 | 21 | 0 | 32 |
VUS | 1 | 125 | 72 | 4 | 202 |
Likely Benign | 0 | 1 | 39 | 61 | 101 |
Benign | 0 | 0 | 7 | 1 | 8 |
Conflicting | — | 12 | |||
| Total | 14 | 127 | 254 | 66 | 473 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PEX11B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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 →External Resources
Links to major genomics databases and tools