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Identification of an alternative transcript fromthe human iduronate-2-sulfatase (IDS) gene
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology, Medical Genetics. (Genetic Disease)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology, Medical Genetics. (Genetic Disease)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology, Medical Genetics. (Genetic Disease)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology, Medical Genetics. (Genetic Disease)
1995 (English)In: Genomics, ISSN 0888-7543, E-ISSN 1089-8646, Vol. 29, no 1, 291-293 p.Article in journal (Refereed) Published
Abstract [en]

Iduronate-2-sulfatase (IDS) is involved in the degradation of heparan sulfate and dermatan sulfate in the lysosomes, and a deficiency in this enzyme results in Hunter syndrome. A 2.3-kb cDNA clone that contains the entire coding sequence of IDS has previously been reported. Here we describe the identification of a 1.4-kb transcript that may encode an IDS-like enzyme. The predicted protein is identical to the previously described enzyme, except for the absence of the 207-amino-acid COOH-terminal domain, which is replaced by 7 amino-acids. Our data suggest that there might exist an additional form of the IDS enzyme in humans. The results from this study may have implications for the pathogenesis of the Hunter syndrome.

Place, publisher, year, edition, pages
1995. Vol. 29, no 1, 291-293 p.
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Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-51757DOI: 10.1006/geno.1995.1249PubMedID: 8530090OAI: oai:DiVA.org:uu-51757DiVA: diva2:79666
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2017-12-04Bibliographically approved

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Pettersson, UlfBondeson, Marie-Louise

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