SEC22B (SEC22 Vesicle Trafficking Protein B) is a member of the SNARE protein family involved in vesicle fusion events between the ER and Golgi. SEC22B plays a crucial role in intracellular membrane trafficking and has been studied in the context of neurodegeneration due to its involvement in protein aggregation and autophagy pathways.
| Synaptotagmin Binding Protein (Sec22b) | |
|---|---|
| Gene Symbol | SEC22B |
| Full Name | Sec22 Vesicle Trafficking Protein B |
| Chromosome | 1q21.2 |
| NCBI Gene ID | 9554 |
| OMIM | 607048 |
| Ensembl ID | ENSG00000169933 |
| UniProt ID | O75396 |
| Associated Diseases | Parkinson's Disease, ALS, Synaptic Dysfunction |
SEC22B encodes a member of the synaptobrevin family involved in vesicle trafficking and SNARE complex formation. SEC22B is a vesicle-SNARE (v-SNARE) that participates in ER-Golgi trafficking and synaptic vesicle fusion. It forms SNARE complexes with syntaxins and SNAP proteins to mediate membrane fusion events. In neurons, SEC22B is essential for neurotransmitter release and synaptic vesicle recycling. Dysfunction of SEC22B has been implicated in neurodegenerative diseases through impaired synaptic transmission and protein trafficking.
High expression in brain, particularly in neurons. Also expressed in neuroendocrine cells and pancreatic beta-cells.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Parkinson's Disease | Various | Risk factor | Impaired vesicle trafficking |
| ALS | Variants | Risk factor | Synaptic dysfunction |
| Neurodevelopmental Disorders | Various | Various | Synaptic transmission defects |