RGD Reference Report - Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. - Rat Genome Database

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

Authors: Gerin, I  Veiga-da-Cunha, M  Achouri, Y  Collet, JF  Van Schaftingen, E 
Citation: Gerin I, etal., FEBS Lett. 1997 Dec 15;419(2-3):235-8.
RGD ID: 1599000
Pubmed: PMID:9428641   (View Abstract at PubMed)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
glycogen storage disease Ib  IAGP 1599000DNA:missense mutation:cds:p.G339C (human)RGD 
glycogen storage disease Ib  ISOSLC37A4 (Homo sapiens)1599000; 1599000DNA:missense mutation:cds:p.G339C (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Slc37a4  (solute carrier family 37 member 4)

Genes (Mus musculus)
Slc37a4  (solute carrier family 37 (glucose-6-phosphate transporter), member 4)

Genes (Homo sapiens)
SLC37A4  (solute carrier family 37 member 4)


Additional Information