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Sequence of a putative glucose 6‐phosphate translocase, mutated in glycogen storage disease type Ib 1
Author(s) -
Gerin Isabelle,
Veiga-da-Cunha Maria,
Achouri Younes,
Collet Jean-François,
Van Schaftingen Emile
Publication year - 1997
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(97)01463-4
Subject(s) - translocase , biology , biochemistry , glycogen storage disease , endoplasmic reticulum , peptide sequence , complementary dna , nucleic acid sequence , messenger rna , phosphatase , gene , microbiology and biotechnology , glycogen , enzyme , chromosomal translocation
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.