Assignment of the gene encoding glycogen synthase (GYS) to human chromosome 19, band q13.3.
Assignment of the gene encoding glycogen synthase (GYS) to human chromosome 19, band q13.3.
复制标题
编码糖原合酶 (GYS) 的基因分配给人类 19 号染色体，带 q13.3。
DOI：
10.1006/geno.1993.1092
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发表时间：
1993
期刊：
影响因子：
4.4
通讯作者：
Bell,GI
中科院分区：
文献类型：
--
作者：
Lehto,M;Stoffel,M;Groop,L;Espinosa3rd,R;LeBeau,MM;Bell,GI
糖原合成酶（UDP葡萄糖：糖原4-[α]- d -葡萄糖基转移酶，EC 2.4.1.11）催化尿苷二磷酸葡萄糖（UPDG）形成糖原。在具有非胰岛素依赖型糖尿病（NIDDM）遗传风险的患者中，胰岛素对肌糖原合成酶激活的损害已经被注意到，这可能代表了这种疾病发病机制的早期缺陷。因此，糖原合酶代表了一个有助于遗传易感性的候选基因。作为研究糖原合成酶在NIDDM遗传中的作用的第一步，我们分离了一个编码人糖原合成酶基因的cosmid（基因符号GYS），并通过荧光原位杂交确定了其染色体定位。四。参考文献图1。
The enzyme glycogen synthase (UDP glocose:glycogen 4-[alpha]-D-glucosyltransferase, EC 2.4.1.11) catalyzes the formation of glycogen from uridine diphosphate glucose (UPDG). Impaired activation of muscle glycogen synthase by insulin has been noted in patients with genetic risk of developing non-insulin-dependent diabets mellitus (NIDDM) and this may represent an early defect in the pathogenesis of this disorder. As such, glycogen synthase represents a candidate gene for contributing to genetic susceptibility. As a first step in studying the role of glycogen synthase in the genetics of NIDDM, we have isolated a cosmid encoding the human glycogen synthase gene (gene symbol GYS) and determined its chromosomal localization by fluorescence in situ hybridization. 4 refs., 1 fig.