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 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.
Karageorgos
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LE
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia. karageorgl@wch.sa.gov.au
Guo
X H
XH
Blanch
L
L
Weber
B
B
Anson
D S
DS
Scott
H S
HS
Hopwood
J J
JJ
D001483:Base Sequence; D015152:Blotting, Northern; D018076:DNA, Complementary; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D008969:Molecular Sequence Data
D018076:DNA, Complementary; D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase