Recombinant Human Glucose-6-phosphate translocase (SLC37A4), partial

1. Study demonstrates that G6PT is essential for proliferation and differentiation of adipose-derived mesenchymal stem cells , providing important insights into the GSD-Ib phenotypes. PMID: 29238966
2. We report the MFRP-related ocular phenotype in three siblings with glycogen storage disease type 1b. Molecular genetic studies identified novel mutations in the MFRP and SLC37A4 genes. PMID: 28511025
3. The most common mutation of SLC37A4 genes identified in Korean patients was c.443C>T (p.Ala148Val), accounting for 55.6% (5/9 patients) of all GSD Ib patients and 38.9% of the tested alleles PMID: 28224773
4. Data suggest that G6PT modulates autophagy independent of its transport activity; G6PT appears to up-regulate autophagy via inactivation of mTORC1; knockdown of G6PT expression activates mTORC1 (mechanistic target of rapamycin complex 1) activity. PMID: 25982172
5. Five SLC37A4 gene mutations were detected in 7 (25%) of the 28 children PMID: 23965881
6. A total of 11 SLC37A4 gene mutations were identified in 15 families of the mainland of China. The frequent mutations are p.Pro191Leu, p.Gly149Glu and c.870 + 5G > A. PMID: 21575371
7. Two novel mutations were identified in these samples: one had a novel mutation (25C>T); the remaining sample carried a 49 bp deletion in intron 12. PMID: 21446359
8. Our results suggest that in Sardinia, Glycogen storage disease Ib is caused by only one mutational event in the G6PT gene, further suggesting that Sardinia is a founder population. PMID: 20578944
9. operates by a similar antiport mechanism as its E. coli homologue, namely, the substrate binds at the N- and C-terminal domain interface and is then transported across the membrane via a rocker-switch type of movement of the two domains PMID: 15260472
10. mutational analysis of G6PT1 in type I glycogen storage disease PMID: 16435186
11. Overexpression of recombinant glucose-6-phosphate translocase rescued the cells from curcumin-induced cell death [ glucose-6-phosphate translocase] PMID: 16777101
12. A novel G6PT1 promoter polymorphism, 259C --> T was found; the - 259*T allele frequency was greater in term SIDS infants than in term control infants and preterm SIDS infants PMID: 17354259
13. A molecular signaling axis regulates the invasive phenotype of brain tumor cells and highlights a new bioswitch function for glucose-6-phosphate transporter (G6PT) in cell survival. PMID: 17460777
14. Targeted inhibition of either MT1-MMP or G6PT may lead to reduced infiltrative and invasive properties of brain tumor cells. PMID: 18267120
15. Human G6PT contains 10-transmembrane helices and is more probable than the bacterial Uhp that contains 12-transmembrane helices. PMID: 19008136

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HGNC: 4061

OMIM: 232220

KEGG: hsa:2542

UniGene: Hs.719203