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

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Gerin, Isabelle [UCL] Veiga-da-Cunha, Maria [UCL] Achouri, Younes [UCL] Collet, Jean-François [UCL] Van Schaftingen, Emile [UCL]

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.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 1997
Journal information "FEBS Letters" - Vol. 419, no. 2-3, p. 235-238 (1997)
Peer reviewed yes
Publisher Elsevier BV
issn 0014-5793
e-issn 1873-3468
Publication status Publié
Affiliation UCL - MD/BICL - Département de biochimie et de biologie cellulaire
MESH Subject Adult ; Amino Acid Sequence ; Animals ; Antiporters ; Base Sequence ; Child ; Female ; Glycogen Storage Disease - enzymology - genetics ; Humans ; Molecular Sequence Data ; Monosaccharide Transport Proteins ; Mutation ; Phosphotransferases - genetics ; Rats ; Sequence Alignment ; Sequence Analysis
Keywords Glucose-6-phosphatase ; Membrane protein ; Translocase ; Glycogen storage disease ; Endoplasmic reticulum
Links
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Bibliographic reference Gerin, Isabelle ; Veiga-da-Cunha, Maria ; Achouri, Younes ; Collet, Jean-François ; Van Schaftingen, Emile. Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. In: FEBS Letters, Vol. 419, no. 2-3, p. 235-238 (1997)
Permanent URL http://hdl.handle.net/2078.1/21993