COPB1
Chr 11ARcoat protein complex I subunit beta 1
Also known as: BARMACS, COPB
The COPB1 protein is a subunit of the coatomer complex that mediates vesicular transport between the endoplasmic reticulum and Golgi apparatus, playing essential roles in protein trafficking, lipid homeostasis, and cellular compartmentalization. Mutations cause Baralle-Macken syndrome, an autosomal recessive disorder. This gene is highly constrained against loss-of-function mutations (pLI 0.999, LOEUF 0.213), indicating that haploinsufficiency is likely not tolerated in the general population.
Primary Disease Associations & Inheritance
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COPB1 · 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