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Identification of an alternative transcript fromthe human iduronate-2-sulfatase (IDS) gene
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- Malmgren, Helena (author)
- Uppsala universitet,Medicinsk genetik,Genetic Disease
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- Carlberg, Britt-Marie (author)
- Uppsala universitet,Medicinsk genetik,Genetic Disease
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- Pettersson, Ulf (author)
- Uppsala universitet,Medicinsk genetik,Genetic Disease
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- (creator_code:org_t)
- Elsevier BV, 1995
- 1995
- English.
- In: Genomics. - : Elsevier BV. - 0888-7543 .- 1089-8646. ; 29:1, s. 291-293
- Journal article (peer-reviewed)
Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- Genomics
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