The Full Wiki

More info on Iduronate-2-sulfatase

Iduronate-2-sulfatase: Wikis


Note: Many of our articles have direct quotes from sources you can cite, within the Wikipedia article! This article doesn't yet, but we're working on it! See more info or our list of citable articles.


From Wikipedia, the free encyclopedia

Iduronate 2-sulfatase (Hunter syndrome)
Symbols IDS; MPS2; SIDS
External IDs OMIM309900 MGI96417 HomoloGene169 GeneCards: IDS Gene
EC number
Species Human Mouse
Entrez 3423 15931
Ensembl n/a ENSMUSG00000035847
UniProt P22304 Q8CJ15
RefSeq (mRNA) NM_000202 NM_001038990
RefSeq (protein) NP_000193 NP_001034079
Location (UCSC) Chr X:
148.38 - 148.39 Mb
Chr X:
66.6 - 66.63 Mb
PubMed search [1] [2]

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]


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. doi:10.1023/A:1005432600871. 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. doi:10.1093/hmg/1.9.755. 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. doi:10.1093/hmg/1.5.335. 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. doi:10.1016/0006-291X(92)90555-Y. 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. doi:10.1016/0888-7543(92)90123-A. 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. doi:10.1007/BF00194643. 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. doi:10.1007/BF00204183. 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. doi:10.1073/pnas.87.21.8531. 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. doi:10.1007/BF00281065. 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. doi:10.1136/adc.58.11.911. 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.  

See also



Got something to say? Make a comment.
Your name
Your email address