Iduronate-2-sulfatase

Iduronate-2-sulfatase

Iduronate-2-sulfatase is a sulfatase enzyme associated with Hunter syndrome.

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summary_text = 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. [cite web | title = Entrez Gene: IDS iduronate 2-sulfatase (Hunter syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3423| accessdate = ]

References

Further reading

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

ee also

* Idursulfase

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