Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene

Journal Article · Fri Sep 01 00:00:00 EDT 1995 · Genomics

DOI:https://doi.org/10.1006/geno.1995.1249· OSTI ID:433319

Malmgren, H; Carlberg, B M; Petterson, U ^[1]

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1. Univ. of Uppsala (Sweden); and others

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. 16 refs., 2 figs.

• OSTI ID: 433319
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 1 Vol. 29; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACIDS
DNA SEQUENCING
DNA-CLONING
ENZYMES
GENE MUTATIONS
GENES
HEREDITARY DISEASES
MAN
METABOLIC DISEASES
PATHOGENESIS
PHENOTYPE
TRANSCRIPTION