Beta Glucuronidase 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.
Beta-glucuronidase (GUSB) is a lysosomal hydrolase encoded by the GUSB gene. It catalyzes the hydrolysis of glucuronic acid residues from glycosaminoglycans. Deficiency causes Mucopolysaccharidosis type VII (Sly syndrome). [1]
| Property | Value | [2]
|----------|-------| [3]
| Protein Name | Beta-glucuronidase | [4]
| Gene | GUSB |
| UniProt ID | P08236 |
| PDB ID | 1BHG |
| Molecular Weight | 332 kDa (tetramer) |
| Subcellular Localization | Lysosome |
| Protein Family | Glycoside hydrolase family 2 |
Beta-glucuronidase:
The enzyme hydrolyzes glucuronic acid from:
This activity is essential for complete GAG degradation in lysosomes.
GAG accumulation causes:
[5] Sly WS, et al. (2001). Beta-glucuronidase deficiency: mucopolysaccharidosis type VII. GeneReviews.
[1:1] Fox JE, et al. (2005). Enzyme replacement therapy in a murine model of Sly syndrome. Molecular Genetics and Metabolism.
Beta-glucuronidase activity serves as a marker of lysosomal and microglial activation in neurodegenerative diseases. Elevated levels are found in:
Recombinant beta-glucuronidase (轂-glucuronidase) for:
AAV vectors delivering GUSB gene:
The study of Beta Glucuronidase 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.
Walkley SU, et al. "Lysosomal storage diseases: Pathways and therapeutic strategies." Nat Rev Neurol. Nat Rev Neurol. 2023. ↩︎ ↩︎
Parenti G, et al. "Lysosomal storage diseases: From pathophysiology to therapy." Adv Pharmacol. Adv Pharmacol. 2023. ↩︎
Sun A. "Lysosomal storage disease overview." J Biochem. J Biochem. 2022. ↩︎
Wang RY, et al. "Enzyme replacement therapy for mucopolysaccharidoses." Mol Genet Metab. Mol Genet Metab. 2021. ↩︎
Platt FM, et al. "Lysosomal storage disorders." Nat Rev Dis Primers. Nat Rev Dis Primers. 2024. ↩︎