From Wikipedia, the free encyclopedia
Iduronate-2-sulfatase is a sulfatase enzyme associated with Hunter syndrome.
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. 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.[1]
[edit] References
[edit] Further reading
- Hopwood JJ, Bunge S, Morris CP, et al. (1994). "Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.". Hum. Mutat. 2 (6): 435–42. doi:10.1002/humu.1380020603. PMID 8111411.
- Gort L, Chabás A, Coll MJ (1998). "Hunter disease in the Spanish population: molecular analysis in 31 families.". J. Inherit. Metab. Dis. 21 (6): 655–61. PMID 9762601.
- Crotty PL, Braun SE, Anderson RA, Whitley CB (1993). "Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.". Hum. Mol. Genet. 1 (9): 755–7. PMID 1284597.
- Bunge S, Steglich C, Beck M, et al. (1993). "Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).". Hum. Mol. Genet. 1 (5): 335–9. PMID 1303211.
- Beck M, Steglich C, Zabel B, et al. (1992). "Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.". Am. J. Med. Genet. 44 (1): 100–3. doi:10.1002/ajmg.1320440123. PMID 1355630.
- Sukegawa K, Tomatsu S, Tamai K, et al. (1992). "Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.". Biochem. Biophys. Res. Commun. 183 (2): 809–13. PMID 1550586.
- Flomen RH, Green PM, Bentley DR, et al. (1992). "Detection of point mutations and a gross deletion in six Hunter syndrome patients.". Genomics 13 (3): 543–50. PMID 1639384.
- Wilson PJ, Suthers GK, Callen DF, et al. (1991). "Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.". Hum. Genet. 86 (5): 505–8. PMID 1901826.
- Wraith JE, Cooper A, Thornley M, et al. (1991). "The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).". Hum. Genet. 87 (2): 205–6. PMID 1906048.
- Wilson PJ, Morris CP, Anson DS, et al. (1990). "Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.". Proc. Natl. Acad. Sci. U.S.A. 87 (21): 8531–5. PMID 2122463.
- Bielicki J, Freeman C, Clements PR, Hopwood JJ (1990). "Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties.". Biochem. J. 271 (1): 75–86. PMID 2222422.
- Daniele A, Di Natale P (1987). "Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase.". Hum. Genet. 75 (3): 234–8. PMID 3104200.
- Mossman J, Blunt S, Stephens R, et al. (1984). "Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene.". Arch. Dis. Child. 58 (11): 911–5. PMID 6418082.
- Sukegawa K, Tomatsu S, Fukao T, et al. (1995). "Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.". Hum. Mutat. 6 (2): 136–43. doi:10.1002/humu.1380060206. PMID 7581397.
- Li P, Huffman P, Thompson JN (1995). "Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.". Hum. Mutat. 5 (3): 272–4. doi:10.1002/humu.1380050314. PMID 7599640.
- Popowska E, Rathmann M, Tylki-Szymanska A, et al. (1995). "Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).". Hum. Mutat. 5 (1): 97–100. doi:10.1002/humu.1380050114. PMID 7728156.
- Ben Simon-Schiff E, Bach G, Hopwood JJ, Abeliovich D (1995). "Mutation analysis of Jewish Hunter patients in Israel.". Hum. Mutat. 4 (4): 263–70. doi:10.1002/humu.1380040406. PMID 7866405.
- Jonsson JJ, Aronovich EL, Braun SE, Whitley CB (1995). "Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.". Am. J. Hum. Genet. 56 (3): 597–607. PMID 7887413.
- Schröder W, Wulff K, Wehnert M, et al. (1994). "Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).". Hum. Mutat. 4 (2): 128–31. doi:10.1002/humu.1380040206. PMID 7981716.
[edit] See also
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Hydrolase: esterases (EC 3.1) |
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| 3.1.1: Carboxylic ester hydrolases |
Cholinesterase - Pectinesterase - 6-phosphogluconolactonase - PAF acetylhydrolase
Lipase (Gastric/Lingual, Pancreatic, Lysosomal, Hormone-sensitive, Endothelial, Hepatic, Lipoprotein, Monoacylglycerol, Diacylglycerol)
Phospholipase ( A1, A2, B)
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| 3.1.2: Thioesterase |
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| 3.1.3: Phosphatase |
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| 3.1.4: Phosphodiesterase |
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| 3.1.6: Sulfatase |
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| other |
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