title: Characterization of the human lysosomal alpha-glucosidase gene.
abstract: The gene coding for human lysosomal alpha-glucosidase was cloned and its structure was determined. The gene is approx. 20 kb long, and contains 20 exons. The first exon is non-coding. The coding sequence of the putative catalytic site domain is interrupted in the middle by an intron of 101 bp. This intron is not conserved in the highly similar region of the human and rabbit isomaltase genes. The promoter region was defined by a CAT assay and the start of the mRNA was determined by primer extension. The promoter has features characteristic of a 'housekeeping' gene. The GC content is high (80%) and distinct TATA and CCAAT motifs are lacking. Two potential binding sites for the AP-2 transcription factor are present. Four potential Sp-1 binding sites are located downstream of the 5' end of the mRNA.
authors: MGC-Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
authors: L H
authors: LH
authors: Hoefsloot
authors: M
authors: M
authors: Hoogeveen-Westerveld
authors: A J
authors: AJ
authors: Reuser
authors: B A
authors: BA
authors: Oostra
mesh_terms: D000818:Animals; D001483:Base Sequence; D001665:Binding Sites; D015500:Chloramphenicol O-Acetyltransferase / Q000235:genetics / Q000378:metabolism; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D005347:Fibroblasts / Q000201:enzymology; D015723:Gene Library; D005796:Genes; D006801:Humans; D007438:Introns; D008099:Liver / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology*; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D011817:Rabbits; D011993:Recombinant Fusion Proteins / Q000378:metabolism; D015183:Restriction Mapping; D000520:alpha-Glucosidases / Q000235:genetics* / Q000378:metabolism
chemical_list: D015345:Oligonucleotide Probes; D011993:Recombinant Fusion Proteins; D004247:DNA; D015500:Chloramphenicol O-Acetyltransferase; D000520:alpha-Glucosidases