Iduronate-2-sulfatase

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iduronate-2-sulfatase
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Identifiers
AliasesIPR035874iduronate 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 IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Iduronate 2-sulfatase (IDS) is a sulfatase enzyme associated with Hunter syndrome.[1]

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

  1. ^ a b "Entrez Gene: IDS iduronate 2-sulfatase (Hunter syndrome)".
  2. ^ 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. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.

Further reading

External links