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

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...

Full description

Saved in:
Bibliographic Details
Published in:FEBS letters 1997-12, Vol.419 (2), p.235-238
Main Authors: Gerin, Isabelle, Veiga-da-Cunha, Maria, Achouri, Younes, Collet, Jean-François, Van Schaftingen, Emile
Format: Article
Language:English
Subjects:
Adult
Amino Acid Sequence
Animals
Antiporters
Base Sequence
Child
Endoplasmic reticulum
Female
Glucose-6-phosphatase
Glycogen storage disease
Glycogen Storage Disease - enzymology
Glycogen Storage Disease - genetics
Humans
Membrane protein
Molecular Sequence Data
Monosaccharide Transport Proteins
Mutation
Phosphotransferases - genetics
Rats
Sequence Alignment
Sequence Analysis
Translocase
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0014-5793
1873-3468
DOI:10.1016/S0014-5793(97)01463-4