Iduronate-2-sulfatase

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IDS
5fql.jpg
Identifiers
AliasesIDS, MPS2, Siduronate 2-sulfatase
External IDsOMIM: 300823 MGI: 96417 HomoloGene: 169 GeneCards: IDS
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for IDS
Genomic location for IDS
BandXq28Start149,476,990 bp[1]
End149,521,096 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000202
NM_001166550
NM_006123

NM_001038990
NM_001038991
NM_010498

RefSeq (protein)

NP_000193
NP_001160022
NP_006114

NP_034628

Location (UCSC)Chr X: 149.48 – 149.52 MbChr X: 70.34 – 70.37 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Iduronate 2-sulfatase (IDS) is a sulfatase enzyme associated with Hunter syndrome.[5]

Function[edit]

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.[5]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000010404 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035847 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: IDS iduronate 2-sulfatase (Hunter syndrome)".

Further reading[edit]

External links[edit]