Structure and Sequence of the Human Sulphamidase Gene |
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| Authors: | Karageorgos Litsa E; Guo Xiao-Hui; Blanch Lianne; Weber Birgit; Anson Donald S; Scott Hamish S; Hopwood John J |
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| Institution: | Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women's and Children's Hospital North Adelaide, South Australia 5006, Australia |
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| Abstract: | Sanfilippo A syndrome (MPS-IIIA) is a mucopolysaccharide lysosomalstorage disorder caused by a deficiency in the lysosomal enzyme,sulphamidase (EC 3.10.1.1), which is required for the degradationof heparan sulphate. A genomic clone containing the entire sulphamidasegene was isolated from a chromosome 17-specific gridded cosmidlibrary. The structure of the gene and the sequence of the exon/intronboundaries and the 5' promoter region were determined. The sulphamidasegene is split into 8 exons spanning approximately 11 kb. |
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| Keywords: | sulphamidase Sanfilippo A syndrome lysosomal storage disorder |
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