Biology:Iduronate-2-sulfatase

Short description: Class of enzymes

Generic protein structure example

Iduronate 2-sulfatase (EC 3.1.6.13; systematic name L-iduronate-2-sulfate 2-sulfohydrolase) is a sulfatase enzyme associated with Hunter syndrome. It catalyses hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin.

Function

Iduronate 2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked mucopolysaccharidosis type II, also known as Hunter syndrome. At least 174 disease-causing mutations in this gene have been discovered. Iduronate-2-sulfatase has a strong sequence homology with human arylsulfatases A, B, and C, and human glucosamine-6-sulfatase. A splice variant of this gene has been described.

See also

• Idursulfase

Further reading

• "Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene". Human Mutation 2 (6): 435–42. 1994. doi:10.1002/humu.1380020603. PMID 8111411. 
• "Hunter disease in the Spanish population: molecular analysis in 31 families". Journal of Inherited Metabolic Disease 21 (6): 655–61. Aug 1998. doi:10.1023/A:1005432600871. PMID 9762601. 
• "Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression". Human Molecular Genetics 1 (9): 755–7. Dec 1992. doi:10.1093/hmg/1.9.755. PMID 1284597. 
• "Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)". Human Molecular Genetics 1 (5): 335–9. Aug 1992. doi:10.1093/hmg/1.5.335. PMID 1303211. 
• "Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II". American Journal of Medical Genetics 44 (1): 100–3. Sep 1992. doi:10.1002/ajmg.1320440123. PMID 1355630. 
• "Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene". Biochemical and Biophysical Research Communications 183 (2): 809–13. Mar 1992. doi:10.1016/0006-291X(92)90555-Y. PMID 1550586. 
• "Detection of point mutations and a gross deletion in six Hunter syndrome patients". Genomics 13 (3): 543–50. Jul 1992. doi:10.1016/0888-7543(92)90123-A. PMID 1639384. 
• "Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome". Human Genetics 86 (5): 505–8. Mar 1991. doi:10.1007/BF00194643. PMID 1901826. 
• "The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome)". Human Genetics 87 (2): 205–6. Jun 1991. doi:10.1007/BF00204183. PMID 1906048. 
• "Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA". Proceedings of the National Academy of Sciences of the United States of America 87 (21): 8531–5. Nov 1990. doi:10.1073/pnas.87.21.8531. PMID 2122463. Bibcode: 1990PNAS...87.8531W. 
• "Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties". The Biochemical Journal 271 (1): 75–86. Oct 1990. doi:10.1042/bj2710075. PMID 2222422. 
• "Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase". Human Genetics 75 (3): 234–8. Mar 1987. doi:10.1007/BF00281065. PMID 3104200. 
• "Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene". Archives of Disease in Childhood 58 (11): 911–5. Nov 1983. doi:10.1136/adc.58.11.911. PMID 6418082. 
• "Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients". Human Mutation 6 (2): 136–43. 1995. doi:10.1002/humu.1380060206. PMID 7581397. 
• "Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome". Human Mutation 5 (3): 272–4. 1995. doi:10.1002/humu.1380050314. PMID 7599640. 
• "Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome)". Human Mutation 5 (1): 97–100. 1995. doi:10.1002/humu.1380050114. PMID 7728156. 
• "Mutation analysis of Jewish Hunter patients in Israel". Human Mutation 4 (4): 263–70. 1995. doi:10.1002/humu.1380040406. PMID 7866405. 
• "Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene". American Journal of Human Genetics 56 (3): 597–607. Mar 1995. PMID 7887413. 
• "Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II)". Human Mutation 4 (2): 128–31. 1994. doi:10.1002/humu.1380040206. PMID 7981716. 

External links

• GeneReviews/NIH/NCBI/UW entry on Mucopolysaccharidosis Type II