| Munc18-1 Protein | |
|---|---|
| Protein Name | Syntaxin Binding Protein 1 (Munc18-1) |
| Gene | STXBP1 |
| UniProt ID | Q86VD1 |
| PDB ID | 1MW2, 3C98 |
| Molecular Weight | 66 kDa |
| Subcellular Localization | Cytosolic, presynaptic terminals |
| Protein Family | Sec1/Munc18 (SM) family |
STXBP1 (Syntaxin Binding Protein 1), also known as Munc18-1, is a critical regulator of synaptic vesicle fusion and neurotransmitter release. As a member of the STXBP/Munc18 protein family, it plays an essential role in synaptic transmission by facilitating the formation and stability of the SNARE complex required for vesicle fusion. STXBP1 is widely expressed in neurons throughout the brain and is particularly important for excitatory synaptic transmission. Mutations in STXBP1 are associated with epileptic encephalopathies and neurodevelopmental disorders, while dysregulation of STXBP1 function may contribute to synaptic dysfunction in neurodegenerative diseases.
Munc18-1 is a member of the SM protein family:
Munc18-1 binds to syntaxin-1 in two distinct modes: closed conformation and SNARE complex binding.
Munc18-1 is essential for neurotransmitter release:
Knockout of STXBP1/Munc18-1 completely blocks neurotransmitter release.
| Strategy | Agent | Status | Notes |
|---|---|---|---|
| Gene therapy | AAV-STXBP1 | Preclinical | For haploinsufficiency |