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Genetics Home Reference: your guide to understanding genetic conditions
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SLC37A4

Reviewed September 2010

What is the official name of the SLC37A4 gene?

The official name of this gene is “solute carrier family 37 (glucose-6-phosphate transporter), member 4.”

SLC37A4 is the gene's official symbol. The SLC37A4 gene is also known by other names, listed below.

What is the normal function of the SLC37A4 gene?

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.

Does the SLC37A4 gene share characteristics with other genes?

The SLC37A4 gene belongs to a family of genes called SLC (solute carriers).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the SLC37A4 gene related to health conditions?

glycogen storage disease type I - caused by mutations in the SLC37A4 gene

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.

Where is the SLC37A4 gene located?

Cytogenetic Location: 11q23.3

Molecular Location on chromosome 11: base pairs 118,895,060 to 118,901,615

The SLC37A4 gene is located on the long (q) arm of chromosome 11 at position 23.3.

The SLC37A4 gene is located on the long (q) arm of chromosome 11 at position 23.3.

More precisely, the SLC37A4 gene is located from base pair 118,895,060 to base pair 118,901,615 on chromosome 11.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SLC37A4?

You and your healthcare professional may find the following resources about SLC37A4 helpful.

  • Educational resources - Information pages
    Biochemistry (fifth edition, 2002): Generation of Glucose from Glucose 6-Phosphate (image) (http://www.ncbi.nlm.nih.gov/books/NBK22591/figure/A2279/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1312/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for SLC37A4 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2542%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((SLC37A4%5BTIAB%5D)%20OR%20(glucose-6-phosphate%20translocase%5BTIAB%5D))%20OR%20(G6PT1%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/602671)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SLC37A4.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/2542)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=2542)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=4061)

What other names do people use for the SLC37A4 gene or gene products?

  • G6PT1
  • G6PT1_HUMAN
  • glucose-6-phosphate translocase
  • solute carrier family 37 member 4

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SLC37A4?

acids ; carrier ; cell ; cytoplasm ; endoplasmic reticulum ; gene ; gluconeogenesis ; glucose ; glycogen ; molecule ; neutropenia ; phosphatase ; phosphate ; protein ; simple sugar ; solute ; toxic ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

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. (http://www.ncbi.nlm.nih.gov/pubmed/19741523?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/2542)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/12373566?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15906092?dopt=Abstract)
  • OMIM: SOLUTE CARRIER FAMILY 37 (GLUCOSE-6-PHOSPHATE TRANSPORTER), MEMBER 4 (http://omim.org/entry/602671)
  • van Schaftingen E, Gerin I. The glucose-6-phosphatase system. Biochem J. 2002 Mar 15;362(Pt 3):513-32. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11879177?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: September 2010
Published: May 20, 2013