PSMB4
Chr 1ARproteasome 20S subunit beta 4
Also known as: HN3, HsN3, PRAAS3, PROS-26, PROS26
PSMB4 encodes a non-catalytic beta subunit of the 20S proteasome core complex, which degrades intracellular proteins to maintain cellular protein homeostasis and generate MHC class I antigenic peptides. Mutations cause proteasome-associated autoinflammatory syndrome 3, an autosomal recessive disorder involving immune system dysfunction. The gene shows relatively low constraint to loss-of-function variants, consistent with recessive inheritance patterns.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PSMB4 · 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