Sequence of the human iduronate 2-sulfatase (IDS) gene.
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Wilson PJ, Meaney CA, Hopwood JJ, Morris CP
Sequence of the human iduronate 2-sulfatase (IDS) gene.
Genomics. 1993 Sep;17(3):773-5. doi: 10.1006/geno.1993.1406.
- PubMed ID
- 8244397 [ View in PubMed]
- Abstract
Deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13) results in the storage of the glycosaminoglycans heparan sulfate and dermatan sulfate, which leads to the lysosomal storage disorder mucopolysaccharidosis type II. Three overlapping genomic clones derived from an X-chromosome-specific library containing the entire IDS gene were isolated and the sequences of the intron boundaries and the 5' promoter region were determined. The IDS gene is split into nine exons spanning approximately 24 kb. The potential promoter for IDS lacks a TATA box but contains GC box consensus sequences, consistent with its role as a housekeeping gene. A polypyrimidine-like repeat is found in intron 1.