Iduronate-2-sulfatase
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| Iduronate 2-sulfatase (Hunter syndrome) | |||||||||||
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| Identifiers | |||||||||||
| Symbols | IDS; MPS2; SIDS | ||||||||||
| External IDs | OMIM: 309900 MGI: 96417 HomoloGene: 169 GeneCards: IDS Gene | ||||||||||
| EC number | 3.1.6.13 | ||||||||||
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| Orthologs | |||||||||||
| 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]
References
Further reading
- Hopwood JJ, Bunge S, Morris CP, et al. (1994). [Expression error: Missing operand for > "Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene."]. Hum. Mutat. 2 (6): 435–42. doi:. PMID 8111411.
- Gort L, Chabás A, Coll MJ (1998). [Expression error: Missing operand for > "Hunter disease in the Spanish population: molecular analysis in 31 families."]. J. Inherit. Metab. Dis. 21 (6): 655–61. doi:. PMID 9762601.
- Crotty PL, Braun SE, Anderson RA, Whitley CB (1993). [Expression error: Missing operand for > "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:. PMID 1284597.
- Bunge S, Steglich C, Beck M, et al. (1993). [Expression error: Missing operand for > "Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)."]. Hum. Mol. Genet. 1 (5): 335–9. doi:. PMID 1303211.
- Beck M, Steglich C, Zabel B, et al. (1992). [Expression error: Missing operand for > "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:. PMID 1355630.
- Sukegawa K, Tomatsu S, Tamai K, et al. (1992). [Expression error: Missing operand for > "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:. PMID 1550586.
- Flomen RH, Green PM, Bentley DR, et al. (1992). [Expression error: Missing operand for > "Detection of point mutations and a gross deletion in six Hunter syndrome patients."]. Genomics 13 (3): 543–50. doi:. PMID 1639384.
- Wilson PJ, Suthers GK, Callen DF, et al. (1991). [Expression error: Missing operand for > "Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome."]. Hum. Genet. 86 (5): 505–8. doi:. PMID 1901826.
- Wraith JE, Cooper A, Thornley M, et al. (1991). [Expression error: Missing operand for > "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:. PMID 1906048.
- Wilson PJ, Morris CP, Anson DS, et al. (1990). [Expression error: Missing operand for > "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:. PMID 2122463.
- Bielicki J, Freeman C, Clements PR, Hopwood JJ (1990). [Expression error: Missing operand for > "Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties."]. Biochem. J. 271 (1): 75–86. PMID 2222422.
- Daniele A, Di Natale P (1987). [Expression error: Missing operand for > "Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase."]. Hum. Genet. 75 (3): 234–8. doi:. PMID 3104200.
- Mossman J, Blunt S, Stephens R, et al. (1984). [Expression error: Missing operand for > "Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene."]. Arch. Dis. Child. 58 (11): 911–5. doi:. PMID 6418082.
- Sukegawa K, Tomatsu S, Fukao T, et al. (1995). [Expression error: Missing operand for > "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:. PMID 7581397.
- Li P, Huffman P, Thompson JN (1995). [Expression error: Missing operand for > "Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome."]. Hum. Mutat. 5 (3): 272–4. doi:. PMID 7599640.
- Popowska E, Rathmann M, Tylki-Szymanska A, et al. (1995). [Expression error: Missing operand for > "Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome)."]. Hum. Mutat. 5 (1): 97–100. doi:. PMID 7728156.
- Ben Simon-Schiff E, Bach G, Hopwood JJ, Abeliovich D (1995). [Expression error: Missing operand for > "Mutation analysis of Jewish Hunter patients in Israel."]. Hum. Mutat. 4 (4): 263–70. doi:. PMID 7866405.
- Jonsson JJ, Aronovich EL, Braun SE, Whitley CB (1995). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II)."]. Hum. Mutat. 4 (2): 128–31. doi:. PMID 7981716.
See also
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