Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA.
Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA.
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人葡萄糖脑苷脂酶 cDNA 的分子克隆和核苷酸序列。
DOI：
10.1073/pnas.82.21.7289
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发表时间：
1985
影响因子：
11.1
通讯作者：
Beutler,E
中科院分区：
文献类型：
--
作者：
Sorge,J;West,C;Westwood,B;Beutler,E
人类葡萄糖脑苷脂酶基因突变导致戈谢病。已使用λ gt 11表达文库从正常细胞中分离出含有整个人葡糖脑苷脂酶编码区的cDNA克隆。完整的核苷酸序列，限制性酶切图谱，和亲水性配置文件。与染色体特异性DNA的杂交将人葡萄糖脑苷脂酶基因定位于1号染色体。可能的前体蛋白是515个氨基酸长。NH 2-末端19个氨基酸构成从成熟蛋白质切割的前导序列。成熟蛋白的预测分子量为55，384，没有糖基化或羧基末端加工。
Mutations in the human glucocerebrosidase gene cause Gaucher disease. A cDNA clone containing the entire human glucocerebrosidase coding region from normal cells has been isolated using lambda gt11 expression libraries. The complete nucleotide sequence, a restriction map, and a hydropathy profile are presented. Hybridization to chromosome-specific DNA localizes the human glucocerebrosidase gene to chromosome 1. The likely precursor protein is 515 amino acids long. The NH2-terminal 19 amino acids constitute a leader sequence that is cleaved from the mature protein. The predicted molecular weight of the mature protein is 55,384, without glycosylation or carboxyl-terminal processing.