Format

Send to

Choose Destination
FEBS Lett. 1997 Dec 15;419(2-3):235-8.

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

Author information

1
Laboratory of Physiological Chemistry, Institute of Cellular Pathology and University of Louvain, Brussels, Belgium.

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.

PMID:
9428641
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center