Iduronate-2-Sulfatase (IDS)

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

SPN	O915
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.

Reference

"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]

"Sequence of the human iduronate 2-sulfatase (IDS) gene."
Genomics 17:773-775(1993) [PubMed] [Europe PMC] [Abstract]

"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]

"Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene."
Genomics 29:291-293(1995) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene."
Hum. Mutat. 2:435-442(1993) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"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]

"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]

"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]

"Mutation analysis of Jewish Hunter patients in Israel."
Hum. Mutat. 4:263-270(1994) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"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]

"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]

"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]

"Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome."
Hum. Genet. 97:198-203(1996) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis in 20 patients with Hunter disease."
Hum. Mutat. 7:76-78(1996) [PubMed] [Europe PMC] [Abstract]

"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]

"Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients."
Hum. Mutat. 10:71-75(1997) [PubMed] [Europe PMC] [Abstract]

"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]

"Molecular analysis in 23 Hunter disease families."
J. Inherit. Metab. Dis. 20:453-456(1997) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis in 57 unrelated patients with MPS II."
Arch. Dis. Child. 79:237-241(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients."
Clin. Genet. 53:362-368(1998) [PubMed] [Europe PMC] [Abstract]

"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]

"Detection of four novel mutations in the iduronate-2-sulfatase gene."
Hum. Mutat. 11:333-333(1998) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"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]

"Hunter disease in the Spanish population: molecular analysis in 31 families."
J. Inherit. Metab. Dis. 21:655-661(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of 6 new mutations in the iduronate sulfatase gene."
Hum. Mutat. 13:338-338(1999) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"Expression of five iduronate-2-sulfatase site-directed mutations."
Biochim. Biophys. Acta 1501:71-80(2000) [PubMed] [Europe PMC] [Abstract]

"MPS II in females: molecular basis of two different cases."
J. Med. Genet. 37:E29-E29(2000) [PubMed] [Europe PMC] [Abstract]

"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]

"Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations."
Clin. Genet. 60:316-318(2001) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"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]