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人艾杜糖醛酸-2-硫酸酯酶(IDS)基因一种可变转录本的鉴定。

Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene.

作者信息

Malmgren H, Carlberg B M, Pettersson U, Bondeson M L

机构信息

Beijer Laboratory, Department of Medical Genetics, University of Uppsala, Sweden.

出版信息

Genomics. 1995 Sep 1;29(1):291-3. doi: 10.1006/geno.1995.1249.

Abstract

Iduronate-2-sulfatase (IDS) is involved in the degradation of heparan sulfate and dermatan sulfate in the lysosomes, and a deficiency in this enzyme results in Hunter syndrome. A 2.3-kb cDNA clone that contains the entire coding sequence of IDS has previously been reported. Here we describe the identification of a 1.4-kb transcript that may encode an IDS-like enzyme. The predicted protein is identical to the previously described enzyme, except for the absence of the 207-amino-acid COOH-terminal domain, which is replaced by 7 amino-acids. Our data suggest that there might exist an additional form of the IDS enzyme in humans. The results from this study may have implications for the pathogenesis of the Hunter syndrome.

摘要

艾杜糖醛酸-2-硫酸酯酶(IDS)参与溶酶体中硫酸乙酰肝素和硫酸皮肤素的降解,该酶缺乏会导致亨特综合征。此前已报道了一个包含IDS完整编码序列的2.3kb cDNA克隆。在此,我们描述了一种可能编码IDS样酶的1.4kb转录本的鉴定。预测的蛋白质与先前描述的酶相同,只是缺少207个氨基酸的COOH末端结构域,取而代之的是7个氨基酸。我们的数据表明,人类可能存在IDS酶的另一种形式。本研究结果可能对亨特综合征的发病机制有影响。

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