Glycogen Branching Enzyme is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| GBE1 |
|---|
| Glycogen Branching Enzyme |
| Protein Name | Glycogen Branching Enzyme |
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| Gene | GBE1 |
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| UniProt ID | Q9BZN1 |
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| PDB ID | 2VJC |
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| Molecular Weight | 80 kDa |
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| Subcellular Localization | Cytoplasm, Glycogen particle |
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| Protein Family | Glycosyltransferase family 48 |
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GBE1 (Glycogen Branching Enzyme) is a protein encoded by the GBE1 gene. It is an enzyme that catalyzes the formation of branch points in glycogen by transferring terminal glucose residues from one chain to a hydroxyl group at the C-6 position of an interior glucose residue.
GBE1 is a 702-amino acid protein with:
- N-terminal catalytic domain
- C-terminal carbohydrate-binding domains
- Active site for glycosyltransferase activity
- Requires a intact active site for function
The glycogen branching enzyme:
- Catalyzes alpha-1,6-glycosidic bond formation
- Creates branch points in glycogen molecules
- Increases glycogen solubility
- Enables rapid glycogen mobilization
¶ Adult Polyglucosan Body Disease (APBD)
Mutations in GBE1 cause accumulation of polyglucosan bodies:
- Abnormal glycogen deposits in neurons and muscle
- Progressive neuropathy
- Cognitive impairment in some cases
- Late-onset form (typically 40-60 years)
¶ Glycogen Storage Disease Type IV (Andersen Disease)
- Childhood-onset form
- Progressive liver disease
- Neuromuscular involvement
- No approved drug therapies
- Gene therapy approaches in development
- Dietary management being explored
- Roby et al. (2004). "Adult polyglucosan body disease: clinical and molecular characteristics." Neurology. PMID: 15505160
The study of Glycogen Branching Enzyme 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.
- Roby et al. (2004). "Adult polyglucosan body disease: clinical and molecular characteristics." Neurology. PMID: 15505160
- Malfatti et al. (2014). "Adult polyglucosan body disease: a case report." J Neurol. PMID: 24500699
- Burwinkel et al. (1998). "Glycogen storage disease type IV: mutation analysis in a case with infantile form." Hum Mutat. PMID: 9664668
- Froese et al. (2015). "Biochemical analysis of novel GBE1 mutations." J Inherit Metab Dis. PMID: 25644162