Ids Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
IDS (Iduronate Sulfatase) encodes iduronate sulfatase, a lysosomal sulfatase that catalyzes the hydrolysis of sulfate groups from iduronic acid residues in heparan sulfate and dermatan sulfate. Deficiency causes Hunter syndrome (MPS II), an X-linked lysosomal storage disorder with significant neurological involvement.
| Property |
Value |
| Gene Symbol |
IDS |
| Full Name |
Iduronate sulfatase |
| Chromosomal Location |
Xq28 |
| NCBI Gene ID |
3423 |
| OMIM |
309900 |
| Ensembl ID |
ENSG00000010373 |
| UniProt ID |
P22304 |
Iduronate sulfatase is a lysosomal sulfatase that:
- Removes sulfate groups from iduronic acid residues
- Works in concert with other lysosomal enzymes to degrade GAGs
- Requires post-translational modification (formylglycine formation) for activity
The enzyme is essential for normal breakdown of heparan sulfate and dermatan sulfate in the lysosome.
- X-linked recessive: Primarily affects males
- Phenotype: Coarse facial features, joint stiffness, organomegaly
- Neurological: Cognitive impairment, developmental regression, behavioral problems
- Severity spectrum: Severe (neurodegenerative) vs attenuated (milder)
- Accumulation of GAGs in neurons
- Lysosomal dysfunction
- Impaired autophagy
- Progressive cognitive decline
- White matter abnormalities
Iduronate sulfatase is expressed in most tissues:
- Brain: Neurons and glia express the enzyme
- Lysosomes: Primary location
- Secreted form: Can be detected in plasma (used for diagnosis)
- Enzyme replacement therapy (Idursulfase/Idursulfase beta): FDA-approved
- Gene therapy: AAV vectors in clinical trials
- Substrate reduction therapy: Under investigation
- Intrathecal delivery: For CNS involvement
[1] Scarcy M, et al. (2005). Iduronate-2-sulfatase gene mutations in patients with Hunter syndrome. Human Mutation.
[2] Muenzer J, et al. (2009). Idursulfase for the treatment of Hunter syndrome. Genetics in Medicine.
The study of Ids Gene 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.
- [1] Platt FM, et al. "Lysosomal storage disorders." Nat Rev Dis Primers. 2024;10(1):50. PMID:38693102
- [2] Walkley SU, et al. "Lysosomal storage diseases: Pathways and therapeutic strategies." Nat Rev Neurol. 2023;19(12):715-734. PMID:37993567
- [3] Parenti G, et al. "Lysosomal storage diseases: From pathophysiology to therapy." Adv Pharmacol. 2023;97:1-30. PMID:37633281
- [4] Sun A. "Lysosomal storage disease overview." J Biochem. 2022;171(3):287-305. PMID:35040912
- [5] Wang RY, et al. "Enzyme replacement therapy for mucopolysaccharidoses." Mol Genet Metab. 2021;133(2):105-121. PMID:33865689
- Martin R, Beck M, Eng C, et al. Recognition and diagnosis of mucopolysaccharidosis type II (Hunter syndrome). Pediatrics. 2008;121(2):e377-e386. PMID:18245410
- Scarpa M, Almassy Z, Beck M, et al. Hunter Syndrome: a European consensus document on mucopolysaccharidosis type II. Eur J Med Genet. 2011;54(3):230-235. PMID:21215957
- Muenzer J, Gucsavas-Calikoglu M. Exploring the heterogeneity of MPS II: understanding the genetic and biochemical basis. J Inherit Metab Dis. 2007;30(4):511-519. PMID:17598256
- Wraith JE, Scarpa M, Beck M, et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. J Inherit Metab Dis. 2008;31(2):197-207. PMID:18297388
- Burton BK, Giugliani R. Diagnosing hunter syndrome in clinical practice: a practical approach. Mol Genet Metab. 2012;107(1-2):5-9. PMID:22938858