Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene. The mutation abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter leads to a congenital disorder of glycosylation instead of glycogen storage disease.

中文翻译：

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SLC37A4-CDG：6-磷酸葡萄糖转运蛋白向高尔基体的定位错误会导致新的先天性糖基化疾病。

葡萄糖6-磷酸转运蛋白的功能丧失是由SLC37A4中的双等位基因突变引起的，并导致糖原贮积病Ib。在这里，我们描述了由同一基因中的一个显性突变引起的第二种疾病。该突变消除了转运蛋白的ER保留信号，并产生了弱的高尔基体保留信号。转运蛋白的细胞内错位导致先天性糖基化疾病而不是糖原贮积病。