STX3 (Syntaxin 3) is a SNARE protein primarily involved in membrane fusion at the plasma membrane. STX3 is essential for synaptic vesicle exocytosis and neuronal signaling. Dysregulation of STX3-mediated fusion events has been implicated in neurodegenerative disease mechanisms.
| Syntaxin 3 | |
|---|---|
| Gene Symbol | STX3 |
| Full Name | Syntaxin 3 |
| Chromosome | 11q12.1 |
| NCBI Gene ID | 6809 |
| OMIM | 600078 |
| Ensembl ID | ENSG00000166900 |
| UniProt ID | Q99986 |
| Associated Diseases | Alzheimer's Disease, Synaptic Dysfunction, Neurodevelopmental Disorders |
STX3 encodes syntaxin 3, a plasma membrane-localized SNARE protein that functions in targeted exocytosis. Syntaxin 3 is involved in the fusion of transport vesicles with the plasma membrane, particularly in polarized trafficking in epithelial cells and neurons. In neurons, syntaxin 3 is implicated in synaptic vesicle docking and neurotransmitter release at specific synaptic domains. It interacts with various SNARE partners including SNAP25 and VAMP proteins.
High expression in brain, particularly in hippocampal neurons and cortical pyramidal cells. Also expressed in epithelial cells and endocrine cells.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Alzheimer's Disease | Various | Risk factor | Impaired synaptic function |
| Neurodevelopmental Disorders | Various | Various | Synaptic transmission defects |