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Glucose-6-Phosphate Transporter (G6PT1)

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SLC37A4; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; TRG19; Solute Carrier Family 37 Member 4; Glucose-5-phosphate transporter; Transformation-related gene 19 protein

Glucose-6-Phosphate Transporter (G6PT1)
CCC E504
HGNC 4061
MGI 1316650
PubMed 21629566
RGD 62066
UniProt O43826
Wiki SLC37A4
SLC37A4 regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.
The protein contains a putative signal for retention in the endoplasmic reticulum. Its nearest homolog was the bacterial gene UhpC, an E. coli glucose-6-phosphate receptor. Northern blot analysis revealed a 2.0-kb mRNA in human liver. The authors concluded that this gene is likely to be a human glucose-6-phosphate translocase.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glucose-6-Phosphate Transporter (G6PT1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glucose-6-Phosphate Transporter (G6PT1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glucose-6-Phosphate Transporter (G6PT1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glucose-6-Phosphate Transporter (G6PT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glucose-6-Phosphate Transporter (G6PT1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glucose-6-Phosphate Transporter (G6PT1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glucose-6-Phosphate Transporter (G6PT1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glucose-6-Phosphate Transporter (G6PT1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glucose-6-Phosphate Transporter (G6PT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glucose-6-Phosphate Transporter (G6PT1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glucose-6-Phosphate Transporter (G6PT1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glucose-6-Phosphate Transporter (G6PT1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glucose-6-Phosphate Transporter (G6PT1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glucose-6-Phosphate Transporter (G6PT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glucose-6-Phosphate Transporter (G6PT1) ELISA Kit Customized Service Offer
  1. "Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib."FEBS Lett. 419:235-238(1997) [PubMed] [Europe PMC] [Abstract]
  2. "Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib."Hum. Genet. 103:493-496(1998) [PubMed] [Europe PMC] [Abstract]
  3. "Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b."J. Biol. Chem. 274:5532-5536(1999) [PubMed] [Europe PMC] [Abstract]
  4. "Structure of the gene mutated in glycogen storage disease type Ib."Gene 227:189-195(1999) [PubMed] [Europe PMC] [Abstract]
  5. "Molecular diagnosis of type 1c glycogen storage disease."Hum. Genet. 104:275-277(1999) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex."Curr. Mol. Med. 2:121-143(2002) [PubMed] [Europe PMC] [Abstract]
  8. "A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic."Am. J. Hum. Genet. 63:976-983(1998) [PubMed] [Europe PMC] [Abstract]
  9. "Structure and mutation analysis of the glycogen storage disease type 1b gene."FEBS Lett. 436:247-250(1998) [PubMed] [Europe PMC] [Abstract]
  10. ErratumFEBS Lett. 445:451-451(1999)
  11. "The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a."Eur. J. Hum. Genet. 7:717-723(1999) [PubMed] [Europe PMC] [Abstract]
  12. "Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c."FEBS Lett. 459:255-258(1999) [PubMed] [Europe PMC] [Abstract]
  13. "Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11."Biochem. Biophys. Res. Commun. 248:426-431(1998) [PubMed] [Europe PMC] [Abstract]
  14. "Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene."Am. J. Med. Genet. 86:253-257(1999) [PubMed] [Europe PMC] [Abstract]
  15. "Identification of a novel missense mutation (G149E) in the glucose-6-phosphate translocase gene in a Chinese family with glycogen storage disease 1b."Hum. Mutat. 13:507-507(1999)
  16. "Mutation analysis in glycogen storage disease type 1 non-a."Hum. Genet. 107:285-289(2000) [PubMed] [Europe PMC] [Abstract]
  17. "A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b."Hum. Mutat. 16:94-94(2000) [PubMed] [Europe PMC] [Abstract]
  18. "Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients."Hum. Mutat. 16:177-177(2000) [PubMed] [Europe PMC] [Abstract]
  19. "Glycogen storage disease type Ib without neutropenia."J. Pediatr. 137:253-256(2000) [PubMed] [Europe PMC] [Abstract]
  20. "Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b."Mol. Genet. Metab. 77:249-251(2002) [PubMed] [Europe PMC] [Abstract]
  21. "Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases."J. Inherit. Metab. Dis. 27:621-623(2004) [PubMed] [Europe PMC] [Abstract]
  22. "Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R."Mol. Genet. Metab. 81:343-346(2004) [PubMed] [Europe PMC] [Abstract]
  23. "A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b."J. Korean Med. Sci. 20:499-501(2005) [PubMed] [Europe PMC] [Abstract]
  24. "Glycogen storage disease type Ib: the first case in Taiwan."Pediatr. Neonatol. 50:125-128(2009) [PubMed] [Europe PMC] [Abstract]
  25. "A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia."J. Mol. Genet. Med. 5:262-263(2011) [PubMed] [Europe PMC] [Abstract]