STXBP1

Gene

syntaxin binding protein 1

HGNCHGNC:11444 EnsemblENSG00000136854 NCBI Gene6812

Locus: gene with protein productLocation: 9q34.11

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known ashUNC18 · MUNC18-1 · UNC18 · rbSec1 · nSec1

View full nomenclature history (6)

Alias symbolshUNC18, MUNC18-1, UNC18, rbSec1, nSec1

Alias namessyntaxin-binding protein 1

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

early-infantile DEE

Genetic developmental and epileptic encephalopathy

Genetic Diseases, Inborn

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2025-04-24.

Open TargetsGene–disease associations from the Open Targets Platform.