イズロン酸-2-スルファターゼ

イズロン酸-2-スルファターゼ(Iduronate-2-sulfatase、EC 3.1.6.13)は、ハンター症候群と関連する酵素である。 イズロン酸-2-スルファターゼは、リソソームでのヘパラン硫酸とデルマタン硫酸の分解に必要である。酵素の欠乏を引き起こすX染色体の遺伝子の変異は、ハンター症候群として知られるII型のムコ多糖症の原因となる。イズロン酸-2-スルファターゼの配列は、ヒトのアリールスルファターゼA、B、C及びグルコサミン-6-スルファターゼと強いホモロジーを持つ。またこの遺伝子のスプライスバリアントが報告されている。 ^ “Entrez Gene: IDS iduronate 2-sulfatase (Hunter syndrome)”. 2014年5月16日閲覧。 GeneReviews/NIH/NCBI/UW entry on Mucopolysaccharidosis Type II 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, Chabas 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. PMC 54990. PMID 2122463. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC54990/.  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. PMC 1149515. PMID 2222422. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1149515/.  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. PMC 1628393. PMID 6418082. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1628393/.  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. PMC 1801163. PMID 7887413. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801163/.  Schroder 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.