STXBP3 Chromosome 1

Syntaxin binding protein 3
2 variants 2 Health Risk

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What This Gene Does
Enables syntaxin binding activity. Involved in negative regulation of calcium ion-dependent exocytosis; neutrophil degranulation; and platelet aggregation. Located in cytosol; plasma membrane; and secretory granule. [provided by Alliance of Genome Resources, Jul 2025]
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS2524500585 Health Risk Likely pathogenic
RS2524537325 Health Risk Likely pathogenic
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