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Target intelligence / Profile preview
Syntaxin binding protein 6 (STXBP6)
- Target
- STXBP6
- Molecular classification
- SNARE complex protein, regulatory protein, syntaxin-binding protein, N-terminal pleckstrin homology domain, C-terminal coiled-coil domain
01
Overview
Syntaxin binding protein 6 (STXBP6), also known as amisyn, is a 210-amino acid regulatory protein that serves as an essential component of the SNAP receptor (SNARE) complex. Located primarily in the cytoplasm and membrane, particularly in the Golgi apparatus, STXBP6 functions as a negative regulator of exocytosis by binding to syntaxin-1, syntaxin-4, and SNAP25 to form non-fusogenic complexes. This protein plays a critical role in neuronal vesicle trafficking, neurotransmitter release, and synaptic function. Mutations in STXBP6 represent a newly identified form of SNAREopathy that can lead to severe neurological conditions including developmental epileptic encephalopathy and autism spectrum disorders, making it an important target for understanding neurodevelopmental pathology.
- Other names
- amisynHSPC156syntaxin-binding protein 6amysin (amisyn)
02
Mechanism of action
Therapeutic approaches would likely focus on modulating its protein-protein interactions or expression levels.
03
Biological functions
Vesicle trafficking regulationExocytosis modulationNeurotransmitter releaseMembrane fusionTrans-Golgi network trafficking
04
Disease associations
Developmental epileptic encephalopathyAutism spectrum disordersNeurodevelopmental disordersCancer (triple negative breast cancer aggressiveness)Neurodegenerative diseases (Alzheimer's disease, Pick's disease, frontotemporal dementia)
05
Safety considerations
STXBP6 mutations can lead to severe developmental epileptic encephalopathy.
06
Biomarkers
Genetic screening for STXBP6 variants (for diagnostic biomarker for certain forms of early-onset epilepsy)
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