Structure and Sequence of the Human Sulphamidase Gene
Open Access
- 1 January 1996
- journal article
- research article
- Published by Oxford University Press (OUP) in DNA Research
- Vol. 3 (4) , 269-271
- https://doi.org/10.1093/dnares/3.4.269
Abstract
Sanfilippo A syndrome (MPS-IIIA) is a mucopolysaccharide lysosomal storage disorder caused by a deficiency in the lysosomal enzyme, sulphamidase (EC 3.10.1.1), which is required for the degradation of heparan sulphate. A genomic clone containing the entire sulphamidase gene was isolated from a chromosome 17-specific gridded cosmid library. The structure of the gene and the sequence of the exon/intron boundaries and the 5′ promoter region were determined. The sulphamidase gene is split into 8 exons spanning approximately 11 kb.Keywords
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