PSMD10
Chr Xproteasome 26S subunit, non-ATPase 10
Also known as: dJ889N15.2, p28, p28(GANK)
The protein acts as a chaperone during assembly of the 26S proteasome's regulatory complex and is involved in protein degradation pathways. Mutations cause autosomal recessive neurodevelopmental disorder with seizures, hypotonia, and developmental delay, typically presenting in infancy or early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.78), suggesting some intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
144 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 66 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 14 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
| Total | — | 81 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PSMD10 · 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