Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib

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• 作者：Gerin ; Isabelle ; Veiga-da-Cunha ; Maria ; Achouri ; Younes ; Collet ; Jean-Franç ; ois ; Van Schaftingen ; Emile
• 关键词：Glucose-6-phosphatase ; Membrane protein ; Translocase ; Glycogen storage disease ; Endoplasmic reticulum
• 刊名：FEBS Letters
• 出版年：1997
• 出版时间：December 15, 1997
• 年：1997
• 卷：419
• 期：2-3
• 页码：235-238
• 全文大小：503 K

文摘

We report the sequence of a human cDNA that encodes a 46 kDa transmembrane protein homologous to bacterial transporters for phosphate esters. This protein presents at its carboxy terminus the consensus motif for retention in the endoplasmic reticulum. Northern blots of rat tissues indicate that the corresponding mRNA is mostly expressed in liver and kidney. In two patients with glycogen storage disease type Ib, mutations were observed that either replaced a conserved Gly to Cys or introduced a premature stop codon. The encoded protein is therefore most likely the glucose 6-phosphate translocase that is functionally associated with glucose-6-phosphatase.