PSMD11
Chr 17proteasome 26S subunit, non-ATPase 11
Also known as: Rpn6, S9, p44.5
This protein is a non-ATPase subunit of the 26S proteasome that is required for proteasome assembly and participates in ATP-dependent degradation of ubiquitinated proteins to maintain cellular protein homeostasis. Loss-of-function mutations cause autosomal recessive neurodevelopmental disorder with developmental delay, intellectual disability, and seizures through impaired protein degradation and disrupted cellular processes including cell cycle progression and DNA damage repair. The gene is highly intolerant to loss-of-function variants (pLI = 1.0, LOEUF = 0.16), consistent with the severity of the associated phenotype.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
73 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 | 12 | 0 | 12 |
Likely Pathogenic | 0 | 1 | 1 | 0 | 2 |
VUS | 1 | 38 | 5 | 0 | 44 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 40 | 18 | 0 | 59 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PSMD11 · 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 →External Resources
Links to major genomics databases and tools