Sorge J A, West C, Kuhl W, Treger L, Beutler E
Department of Basic and Clinical Research, Scripps Clinic and Research Foundation, La Jolla, CA 92037.
Am J Hum Genet. 1987 Dec;41(6):1016-24.
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.
戈谢病是由于葡糖脑苷脂酶活性缺乏所致。葡糖脑苷脂酶是一种溶酶体酶，可能需要信号肽来穿过糙面内质网的膜，并进行糖基化以转运至溶酶体。人葡糖脑苷脂酶cDNA在其长开放阅读框中含有两个潜在的ATG起始密码子。从每个ATG起始的信号肽在疏水性方面有很大差异。我们证明，任一ATG都能独立发挥作用，在培养的成纤维细胞中产生有活性的葡糖脑苷脂酶。由任一ATG起始的翻译产物所产生的葡糖脑苷脂酶活性主要存在于溶酶体中。
