Journal Article

Structure and Sequence of the Human Sulphamidase Gene

Litsa E. Karageorgos, Xiao-Hui Guo, Lianne Blanch, Birgit Weber, Donald S. Anson, Hamish S. Scott and John J. Hopwood

in DNA Research

Published on behalf of Kazusa DNA Research Institute

Volume 3, issue 4, pages 269-271
Published in print January 1996 | ISSN: 1340-2838
Published online January 1996 | e-ISSN: 1756-1663 | DOI: http://dx.doi.org/10.1093/dnares/3.4.269

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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: sulphamidase; Sanfilippo A syndrome; lysosomal storage disorder

Journal Article.  0 words. 

Subjects: Genetics and Genomics

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