Alpha L Iduronidase 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.
Alpha-L-iduronidase is a lysosomal hydrolase encoded by the IDUA gene. It catalyzes the hydrolysis of alpha-L-iduronic acid residues in glycosaminoglycans (GAGs), specifically heparan sulfate and dermatan sulfate. Deficiency causes Mucopolysaccharidosis type I (MPS I), also known as Hurler syndrome. [1]
| Property | Value | [2]
|----------|-------| [3]
| Protein Name | Alpha-L-iduronidase | [4]
| Gene | IDUA |
| UniProt ID | P35475 |
| Molecular Weight | 76 kDa (dimer) |
| Subcellular Localization | Lysosome |
| Protein Family | Glycoside hydrolase family 39 |
Alpha-L-iduronidase:
The enzyme hydrolyzes alpha-L-iduronic acid residues from:
This function is part of the lysosomal degradation pathway for GAGs, which is essential for normal cellular function and tissue maintenance.
Accumulation of GAGs causes:
[5] Wraith JE, et al. (2005). Enzyme replacement therapy with recombinant human alpha-L-iduronidase. Genetics in Medicine.
[1:1] Clarke LA, et al. (2009). Long-term open-label extension study of idursulfase therapy. Molecular Genetics and Metabolism.
The study of Alpha L Iduronidase 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. ↩︎