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| Gene | VAPB |
|---|---|
| Protein | VAPB (Vesicle-Associated Membrane Protein-Associated Protein B) |
| UniProt | O95255 |
| Molecular Weight | ~33 kDa |
| Localization | ER membrane |
| Protein Family | VAP family |
| Associated Diseases | ALS8, ALS |
Vapb Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
VAPB is an ER-resident protein involved in lipid metabolism, calcium homeostasis, and ER homeostasis. Dominant mutations cause a form of ALS, while the protein plays important roles in neurodegeneration broadly.
VAPB (Vesicle-associated membrane protein-associated protein B) is an ER-resident protein involved in lipid metabolism, ER homeostasis, and intracellular trafficking. Dominant VAPB mutations cause ALS (ALS8), characterized by atypical cytoplasmic inclusions and ER stress. VAPB dysfunction leads to impaired lipid exchange between ER and other organelles, contributing to neurodegeneration in ALS and FTD.
VAPB is a type III ER transmembrane protein:
| Property | Value |
|---|---|
| Gene | VAPB |
| Protein | VAPB (Vesicle-Associated Membrane Protein-Associated Protein B) |
| UniProt | O95255 |
| Molecular Weight | ~33 kDa |
| Subcellular Localization | ER membrane |
| Protein Family | VAP family (VAPA, VAPB) |
VAPB participates in multiple cellular processes:
The MSP domain can be cleaved and secreted to regulate:
Dominant VAPB mutations (P56S, Δ56-63) cause familial ALS8:
| Mechanism | Effect |
|---|---|
| ER stress | Upregulation of CHOP, activation of caspases |
| Lipid dysregulation | Altered membrane composition |
| Calcium dyshomeostasis | Excitotoxicity, mitochondrial dysfunction |
| Autophagy impairment | Protein aggregate accumulation |
| Approach | Target | Status |
|---|---|---|
| ER stress modulators | Reduce UPR activation | Research |
| Lipid metabolism enhancers | Restore membrane function | Research |
| Calcium stabilizers | Prevent excitotoxicity | Research |
The study of Vapb Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.