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  • Title: The human glucocerebrosidase gene has two functional ATG initiator codons.
    Author: Sorge JA, West C, Kuhl W, Treger L, Beutler E.
    Journal: Am J Hum Genet; 1987 Dec; 41(6):1016-24. PubMed ID: 3687939.
    Abstract:
    Gaucher disease is due to a deficiency in the activity of the enzyme glucocerebrosidase. Glucocerebrosidase is a lysosomal enzyme that presumably requires a signal peptide for transport across the membrane of the rough endoplasmic reticulum and glycosylation for transport into lysosomes. Human glucocerebrosidase cDNA contains two potential ATG start codons in its long open reading frame. The signal peptides that are initiated from each ATG are quite different in their hydrophobicity. We demonstrate that either ATG can function independently to produce active glucocerebrosidase enzyme in cultured fibroblasts. The glucocerebrosidase activity produced from translation products initiated at either ATG is found predominantly in the lysosomes.
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