ECPAS
Chr 9Ecm29 proteasome adaptor and scaffold
Also known as: ECM29, KIAA0368
This protein functions as an adapter that couples the 26S proteasome to various cellular compartments including the endoplasmic reticulum and centrosome, facilitating protein degradation through the ERAD pathway. The gene is extremely intolerant to loss-of-function variants (pLI ~1.0, LOEUF 0.198), but disease associations have not yet been established in humans. Given its essential role in cellular protein quality control and high constraint metrics, pathogenic variants would likely cause severe developmental disorders.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ECPAS · 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