USO1
Chr 4USO1 vesicle transport factor
The USO1 protein is a vesicular transport factor that regulates intercisternal transport in the Golgi apparatus and promotes targeting of COPII vesicles from the endoplasmic reticulum to the Golgi by forming SNARE complexes. Mutations cause autosomal recessive developmental delay with dysmorphic facies and dental anomalies. This gene is highly constrained against loss-of-function variants (LOEUF = 0.369), suggesting intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
USO1 · 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