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SLC37A4 gene

solute carrier family 37 member 4
From Genetics Home Reference. Learn more

Normal Function

The SLC37A4 gene provides instructions for making a protein called glucose 6-phosphate translocase. This protein transports the sugar molecule glucose 6-phosphate from the fluid inside the cell (cytoplasm) to the endoplasmic reticulum, which is a structure inside cells that is involved in protein processing and transport. At the membrane of the endoplasmic reticulum, glucose 6-phosphate translocase works together with the glucose 6-phosphatase protein (produced from the G6PC gene) to break down glucose 6-phosphate. The breakdown of this molecule produces the simple sugar glucose, which is the primary energy source for most cells in the body.

Health Conditions Related to Genetic Changes

Glycogen storage disease type I

More than 80 mutations in the SLC37A4 gene have been found to cause glycogen storage disease type Ib (GSDIb). Most of these mutations change single protein building blocks (amino acids) in glucose 6-phosphate translocase. SLC37A4 gene mutations disrupt the normal functioning of glucose 6-phosphate translocase and prevent the transport of glucose 6-phosphate to the endoplasmic reticulum. If glucose 6-phosphate cannot get to the endoplasmic reticulum, it cannot get broken down and glucose is not produced. Glucose 6-phosphate that is not broken down to glucose is converted to fat and glycogen, a complex sugar that is stored within cells. Too much fat and glycogen stored within a cell can be toxic. This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDIb. For reasons that are unclear, mutations in the SLC37A4 gene also cause a shortage of white blood cells (neutropenia) in people with GSDIb.

More About This Health Condition

Other Names for This Gene

  • G6PT1
  • G6PT1_HUMAN
  • glucose-6-phosphate translocase
  • solute carrier family 37 (glucose-6-phosphate transporter), member 4

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Research Resources

References

  • Chou JY, Jun HS, Mansfield BC. Neutropenia in type Ib glycogen storage disease. Curr Opin Hematol. 2010 Jan;17(1):36-42. doi: 10.1097/MOH.0b013e328331df85. Review. Citation on PubMed or Free article on PubMed Central
  • Matern D, Seydewitz HH, Bali D, Lang C, Chen YT. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Eur J Pediatr. 2002 Oct;161 Suppl 1:S10-9. Epub 2002 Jul 27. Citation on PubMed
  • Melis D, Fulceri R, Parenti G, Marcolongo P, Gatti R, Parini R, Riva E, Della Casa R, Zammarchi E, Andria G, Benedetti A. Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur J Pediatr. 2005 Aug;164(8):501-8. Epub 2005 May 19. Review. Citation on PubMed
  • van Schaftingen E, Gerin I. The glucose-6-phosphatase system. Biochem J. 2002 Mar 15;362(Pt 3):513-32. Review. Citation on PubMed or Free article on PubMed Central
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