Structure and sequence of the human sulphamidase gene

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 chrom...

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Bibliographic Details
Published in:DNA research 1996-08, Vol.3 (4), p.269-271
Main Authors: Karageorgos, L E, Guo, X H, Blanch, L, Weber, B, Anson, D S, Scott, H S, Hopwood, J J
Format: Article
Language:English
Subjects:
Base Sequence
Blotting, Northern
DNA, Complementary
Humans
Hydrolases - genetics
Molecular Sequence Data
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Summary: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.
ISSN:1340-2838
DOI:10.1093/dnares/3.4.269