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

被引：175
|
作者：
Gerin, I
Veiga-da-Cunha, M
Achouri, Y
Collet, JF
Van Schaftingen, E
机构：
[1] Inst Cellular Pathol, Physiol Chem Lab, B-1200 Brussels, Belgium
[2] Univ Louvain, B-1200 Brussels, Belgium
来源：
FEBS LETTERS | 1997年 / 419卷 / 2-3期
关键词：
glucose-6-phosphatase; membrane protein; translocase; glycogen storage disease; endoplasmic reticulum;
D O I：
10.1016/S0014-5793(97)01463-4
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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. (C) 1997 Federation of European Biochemical Societies.
引用
收藏
页码：235 / 238
页数：4
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