Iduronate-2-sulfatase

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Iduronate 2-sulfatase (Hunter syndrome)
Identifiers
Symbol(s) IDS; MPS2; SIDS
External IDs OMIM: 309900 MGI: 96417 HomoloGene: 169
EC number 3.1.6.13
Orthologs
Human Mouse
Entrez 3423 15931
Ensembl n/a ENSMUSG00000035847
Uniprot n/a Q8CJ15
Refseq NM_000202 (mRNA)
NP_000193 (protein)		 NM_001038990 (mRNA)
NP_001034079 (protein)
Location n/a 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]

[edit] References

  1. ^ Entrez Gene: IDS iduronate 2-sulfatase (Hunter syndrome).

[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

 This hydrolase article is a stub. You can help Wikipedia by expanding it.
v • d • e
Hydrolase: esterases (EC 3.1)
3.1.1: Carboxylic ester hydrolases
3.1.2: Thioesterase
3.1.3: Phosphatase
3.1.4: Phosphodiesterase
3.1.6: Sulfatase
other
v • d • e
Metabolism: carbohydrate metabolism - glycosaminoglycan enzymes
Anabolism
Catabolism: Hunter, Hurler
Iduronate-2-sulfatase - Iduronidase
Catabolism: Sanfilippo, Sly
Catabolism: Morquio/Maroteaux-Lamy