≡

Iduronate-2-Sulfatase (IDS)

[Edit]

MPS2; SIDS; Hunter Syndrome; Idursulfase; Alpha-L-iduronate sulfate sulfatase

Iduronate-2-Sulfatase (IDS)
CCC H833
HGNC 5389
MGI 96417
PubMed 8111411
RGD 1560491
UniProt P22304
Wiki IDS
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.
Two forms of MPS II are distinguishable clinically. A severe form (called MPS IIA in my nomenclature) has progressive mental retardation and physical disability and death before age 15 years in most cases. A mild form (called MPS IIB) is compatible with survival to adulthood, and reproduction is known to have occurred.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPH833Hu01 Recombinant Iduronate-2-Sulfatase (IDS) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAH833Hu01 Polyclonal Antibody to Iduronate-2-Sulfatase (IDS) WB,IHC
MAH833Hu21 Monoclonal Antibody to Iduronate-2-Sulfatase (IDS) WB; IHC; ICC; IP.
Assay Kits SEH833Hu ELISA Kit for Iduronate-2-Sulfatase (IDS) Enzyme-linked immunosorbent assay for Antigen Detection.
SCH833Hu CLIA Kit for Iduronate-2-Sulfatase (IDS) Chemiluminescent immunoassay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPH833Mu01 Recombinant Iduronate-2-Sulfatase (IDS) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAH833Mu01 Polyclonal Antibody to Iduronate-2-Sulfatase (IDS) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Iduronate-2-Sulfatase (IDS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Iduronate-2-Sulfatase (IDS) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPH833Ra01 Recombinant Iduronate-2-Sulfatase (IDS) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAH833Ra01 Polyclonal Antibody to Iduronate-2-Sulfatase (IDS) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Iduronate-2-Sulfatase (IDS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Iduronate-2-Sulfatase (IDS) ELISA Kit Customized Service Offer
  1. "Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA."Proc. Natl. Acad. Sci. U.S.A. 87:8531-8535(1990) [PubMed] [Europe PMC] [Abstract]
  2. "Sequence of the human iduronate 2-sulfatase (IDS) gene."Genomics 17:773-775(1993) [PubMed] [Europe PMC] [Abstract]
  3. "130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus."Genome Res. 5:71-78(1995) [PubMed] [Europe PMC] [Abstract]
  4. "Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene."Genomics 29:291-293(1995) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene."Hum. Mol. Genet. 2:5-10(1993) [PubMed] [Europe PMC] [Abstract]
  8. "Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene."Hum. Mutat. 2:435-442(1993) [PubMed] [Europe PMC] [Abstract]
  9. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)."Hum. Mol. Genet. 1:335-339(1992) [PubMed] [Europe PMC] [Abstract]
  11. "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. 1:755-757(1992) [PubMed] [Europe PMC] [Abstract]
  12. "Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)."Hum. Mol. Genet. 2:1871-1875(1993) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II)."Hum. Mutat. 4:128-131(1994) [PubMed] [Europe PMC] [Abstract]
  14. "Mutation analysis of Jewish Hunter patients in Israel."Hum. Mutat. 4:263-270(1994) [PubMed] [Europe PMC] [Abstract]
  15. "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. 56:597-607(1995) [PubMed] [Europe PMC] [Abstract]
  16. "Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome)."Hum. Mutat. 5:97-100(1995) [PubMed] [Europe PMC] [Abstract]
  17. "Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients."Hum. Mutat. 6:136-143(1995) [PubMed] [Europe PMC] [Abstract]
  18. "Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome."Hum. Mutat. 5:272-274(1995) [PubMed] [Europe PMC] [Abstract]
  19. "Mucopolysaccharidosis type II (Hunter syndrome): mutation 'hot spots' in the iduronate-2-sulfatase gene."Am. J. Hum. Genet. 59:1202-1209(1996) [PubMed] [Europe PMC] [Abstract]
  20. "Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome."Hum. Genet. 97:198-203(1996) [PubMed] [Europe PMC] [Abstract]
  21. "Mutation analysis in 20 patients with Hunter disease."Hum. Mutat. 7:76-78(1996) [PubMed] [Europe PMC] [Abstract]
  22. "Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons."J. Inherit. Metab. Dis. 19:93-94(1996) [PubMed] [Europe PMC] [Abstract]
  23. "Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients."Hum. Mutat. 10:71-75(1997) [PubMed] [Europe PMC] [Abstract]
  24. "Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele."Hum. Mutat. 10:361-367(1997) [PubMed] [Europe PMC] [Abstract]
  25. "Molecular analysis in 23 Hunter disease families."J. Inherit. Metab. Dis. 20:453-456(1997) [PubMed] [Europe PMC] [Abstract]
  26. "Mutation analysis in 57 unrelated patients with MPS II."Arch. Dis. Child. 79:237-241(1998) [PubMed] [Europe PMC] [Abstract]
  27. "Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients."Clin. Genet. 53:362-368(1998) [PubMed] [Europe PMC] [Abstract]
  28. "Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients."Hum. Genet. 103:732-735(1998) [PubMed] [Europe PMC] [Abstract]
  29. "Detection of four novel mutations in the iduronate-2-sulfatase gene."Hum. Mutat. 11:333-333(1998) [PubMed] [Europe PMC] [Abstract]
  30. "Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease."Hum. Mutat. Suppl. 1:S66-S68(1998) [PubMed] [Europe PMC] [Abstract]
  31. "Identification of 9 novel gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients."Hum. Mutat. 12:433-433(1998) [PubMed] [Europe PMC] [Abstract]
  32. "Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)."J. Inherit. Metab. Dis. 21:60-70(1998) [PubMed] [Europe PMC] [Abstract]
  33. "Hunter disease in the Spanish population: molecular analysis in 31 families."J. Inherit. Metab. Dis. 21:655-661(1998) [PubMed] [Europe PMC] [Abstract]
  34. "Identification of 6 new mutations in the iduronate sulfatase gene."Hum. Mutat. 13:338-338(1999) [PubMed] [Europe PMC] [Abstract]
  35. "Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations."Hum. Mutat. 14:87-87(1999) [PubMed] [Europe PMC] [Abstract]
  36. "Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)."J. Med. Genet. 36:21-27(1999) [PubMed] [Europe PMC] [Abstract]
  37. "Expression of five iduronate-2-sulfatase site-directed mutations."Biochim. Biophys. Acta 1501:71-80(2000) [PubMed] [Europe PMC] [Abstract]
  38. "MPS II in females: molecular basis of two different cases."J. Med. Genet. 37:E29-E29(2000) [PubMed] [Europe PMC] [Abstract]
  39. "The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II."Biochim. Biophys. Acta 1537:233-238(2001) [PubMed] [Europe PMC] [Abstract]
  40. "Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations."Clin. Genet. 60:316-318(2001) [PubMed] [Europe PMC] [Abstract]
  41. "Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome."Am. J. Med. Genet. A 120:84-87(2003) [PubMed] [Europe PMC] [Abstract]
  42. "Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations."Hum. Mutat. 21:449-450(2003) [PubMed] [Europe PMC] [Abstract]
  43. "Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts."J. Mol. Med. 84:692-700(2006) [PubMed] [Europe PMC] [Abstract]