| iduronate-2-sulfatase | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | IPR035874iduronate sulfate sulfataseL-idurono sulfate sulfataseiduronate-2-sulfate sulfataseidurono-2-sulfataseiduronide-2-sulfate sulfatasesulfoiduronate sulfohydrolaseL-iduronosulfatase2-sulfo-L-iduronate 2-sulfatasesulfo-L-iduronate sulfataseL-iduronate 2-sulfate sulfataseiduronate-2-sulphataseiduronate sulfataseL-iduronate-2-sulfate 2-sulfohydrolase | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | GeneCards: [1] | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Iduronate 2-sulfatase (EC 3.1.6.13; systematic name L-iduronate-2-sulfate 2-sulfohydrolase) is a sulfatase enzyme associated with Hunter syndrome.[1] It catalyses hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin.
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Transcription
Function
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. At least 174 disease-causing mutations in this gene have been discovered.[2] 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]
See also
References
- ^ a b "Entrez Gene: IDS iduronate 2-sulfatase (Hunter syndrome)".
- ^ Šimčíková D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. Bibcode:2019NatSR...918577S. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.
Further reading
- Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A (1994). "Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene". Human Mutation. 2 (6): 435–42. doi:10.1002/humu.1380020603. PMID 8111411. S2CID 19516545.
- Gort L, Chabás A, Coll MJ (Aug 1998). "Hunter disease in the Spanish population: molecular analysis in 31 families". Journal of Inherited Metabolic Disease. 21 (6): 655–61. doi:10.1023/A:1005432600871. PMID 9762601. S2CID 3091580.
- Crotty PL, Braun SE, Anderson RA, Whitley CB (Dec 1992). "Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression". Human Molecular Genetics. 1 (9): 755–7. doi:10.1093/hmg/1.9.755. PMID 1284597.
- Bunge S, Steglich C, Beck M, Rosenkranz W, Schwinger E, Hopwood JJ, Gal A (Aug 1992). "Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)". Human Molecular Genetics. 1 (5): 335–9. doi:10.1093/hmg/1.5.335. PMID 1303211.
- Beck M, Steglich C, Zabel B, Dahl N, Schwinger E, Hopwood JJ, Gal A (Sep 1992). "Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II". American Journal of Medical Genetics. 44 (1): 100–3. doi:10.1002/ajmg.1320440123. PMID 1355630.
- Sukegawa K, Tomatsu S, Tamai K, Ikeda M, Sasaki T, Masue M, Fukuda S, Yamada Y, Orii T (Mar 1992). "Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene". Biochemical and Biophysical Research Communications. 183 (2): 809–13. doi:10.1016/0006-291X(92)90555-Y. PMID 1550586.
- Flomen RH, Green PM, Bentley DR, Giannelli F, Green EP (Jul 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, Baker E, Nelson PV, Cooper A, Wraith JE, Sutherland GR, Morris CP, Hopwood JJ (Mar 1991). "Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome". Human Genetics. 86 (5): 505–8. doi:10.1007/BF00194643. PMID 1901826. S2CID 12618996.
- Wraith JE, Cooper A, Thornley M, Wilson PJ, Nelson PV, Morris CP, Hopwood JJ (Jun 1991). "The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome)". Human Genetics. 87 (2): 205–6. doi:10.1007/BF00204183. PMID 1906048. S2CID 44338173.
- Wilson PJ, Morris CP, Anson DS, Occhiodoro T, Bielicki J, Clements PR, Hopwood JJ (Nov 1990). "Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA". Proceedings of the National Academy of Sciences of the United States of America. 87 (21): 8531–5. Bibcode:1990PNAS...87.8531W. doi:10.1073/pnas.87.21.8531. PMC 54990. PMID 2122463.
- Bielicki J, Freeman C, Clements PR, Hopwood JJ (Oct 1990). "Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties". The Biochemical Journal. 271 (1): 75–86. doi:10.1042/bj2710075. PMC 1149515. PMID 2222422.
- Daniele A, Di Natale P (Mar 1987). "Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase". Human Genetics. 75 (3): 234–8. doi:10.1007/BF00281065. PMID 3104200. S2CID 13349788.
- Mossman J, Blunt S, Stephens R, Jones EE, Pembrey M (Nov 1983). "Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene". Archives of Disease in Childhood. 58 (11): 911–5. doi:10.1136/adc.58.11.911. PMC 1628393. PMID 6418082.
- Sukegawa K, Tomatsu S, Fukao T, Iwata H, Song XQ, Yamada Y, Fukuda S, Isogai K, Orii T (1995). "Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients". Human Mutation. 6 (2): 136–43. doi:10.1002/humu.1380060206. PMID 7581397. S2CID 10038064.
- Li P, Huffman P, Thompson JN (1995). "Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome". Human Mutation. 5 (3): 272–4. doi:10.1002/humu.1380050314. PMID 7599640. S2CID 30284511.
- Popowska E, Rathmann M, Tylki-Szymanska A, Bunge S, Steglich C, Schwinger E, Gal A (1995). "Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome)". Human Mutation. 5 (1): 97–100. doi:10.1002/humu.1380050114. PMID 7728156. S2CID 2348885.
- Ben Simon-Schiff E, Bach G, Hopwood JJ, Abeliovich D (1995). "Mutation analysis of Jewish Hunter patients in Israel". Human Mutation. 4 (4): 263–70. doi:10.1002/humu.1380040406. PMID 7866405. S2CID 23243913.
- Jonsson JJ, Aronovich EL, Braun SE, Whitley CB (Mar 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". American Journal of Human Genetics. 56 (3): 597–607. PMC 1801163. PMID 7887413.
- Schröder W, Wulff K, Wehnert M, Seidlitz G, Herrmann FH (1994). "Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II)". Human Mutation. 4 (2): 128–31. doi:10.1002/humu.1380040206. PMID 7981716. S2CID 42344223.
External links
This page was last edited on 13 August 2023, at 10:58