PSMD5
Chr 9proteasome 26S subunit, non-ATPase 5
Also known as: S5B
This protein functions as a chaperone during assembly of the 26S proteasome, specifically facilitating formation of the base subcomplex of the 19S regulatory component that is essential for ATP/ubiquitin-dependent protein degradation. Mutations in PSMD5 cause autosomal recessive neurodevelopmental disorder with microcephaly, seizures, and brain atrophy through impaired proteasome assembly leading to defective cellular protein homeostasis. The pathogenic mechanism involves disruption of the critical chaperone function required for proper 26S proteasome formation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PSMD5 · 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