STXBP3
Chr 1syntaxin binding protein 3
Also known as: MUNC18-3, MUNC18C, PSP, UNC-18C
STXBP3 encodes a protein that binds syntaxins and regulates calcium-dependent exocytosis, including insulin-dependent GLUT4 vesicle transport in adipocytes and neutrophil degranulation. The gene shows extremely high constraint against loss-of-function variants (pLI nearly 1.0), suggesting that heterozygous mutations would likely cause dominant disease, though specific associated disorders have not yet been established. Clinical presentations would likely involve metabolic dysfunction given the protein's role in glucose transport regulation.
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
STXBP3 · 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