Article
Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.
FEBS letters - 15 Dec 1997
Gerin I, Veiga-da-Cunha M, Achouri Y, Collet J F, Van Schaftingen E
Abstract excerpt
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,...
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