title: Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.
abstract: 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.
authors.affiliation: Laboratory of Physiological Chemistry, Institute of Cellular Pathology and University of Louvain, Brussels, Belgium.
authors.forename: I
authors.initials: I
authors.lastname: Gerin
authors.forename: M
authors.initials: M
authors.lastname: Veiga-da-Cunha
authors.forename: Y
authors.initials: Y
authors.lastname: Achouri
authors.forename: J F
authors.initials: JF
authors.lastname: Collet
authors.forename: E
authors.initials: E
authors.lastname: Van Schaftingen
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D017920:Antiporters; D001483:Base Sequence; D002648:Child; D005260:Female; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009004:Monosaccharide Transport Proteins; D009154:Mutation; D010770:Phosphotransferases / Q000235:genetics*; D051381:Rats; D016415:Sequence Alignment; D017421:Sequence Analysis
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C503533:Slc37a4 protein, rat; C111261:glucose 6-phosphate(transporter); D010770:Phosphotransferases