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Genetics Home Reference: your guide to understanding genetic conditions
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G6PC

Reviewed September 2010

What is the official name of the G6PC gene?

The official name of this gene is “glucose-6-phosphatase, catalytic subunit.”

G6PC is the gene's official symbol. The G6PC gene is also known by other names, listed below.

What is the normal function of the G6PC gene?

The G6PC gene provides instructions for making an enzyme called glucose 6-phosphatase. This enzyme is found on the membrane of the endoplasmic reticulum, which is a structure inside cells that is involved in protein processing and transport. Glucose 6-phosphatase works together with the glucose 6-phosphate translocase protein (produced from the SLC37A4 gene) to break down a type of sugar molecule called glucose 6-phosphate. The breakdown of this molecule produces the simple sugar glucose, which is the primary source of energy for most cells in the body. The glucose 6-phosphatase enzyme is expressed (active) in the liver, kidneys, and intestines, and is the main regulator of glucose production in the liver.

How are changes in the G6PC gene related to health conditions?

glycogen storage disease type I - caused by mutations in the G6PC gene

At least 85 mutations in the G6PC gene have been found to cause glycogen storage disease type Ia (GSDIa). Most of these mutations change single protein building blocks (amino acids) in the glucose 6-phosphatase enzyme. Some specific mutations are seen more frequently in certain ethnic or racial groups. Mutations in the G6PC gene impair the function of the glucose 6-phosphatase enzyme. When this enzyme is not functioning normally, glucose 6-phosphate is not 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 GSDIa.

Where is the G6PC gene located?

Cytogenetic Location: 17q21

Molecular Location on chromosome 17: base pairs 42,900,796 to 42,914,432

The G6PC gene is located on the long (q) arm of chromosome 17 at position 21.

The G6PC gene is located on the long (q) arm of chromosome 17 at position 21.

More precisely, the G6PC gene is located from base pair 42,900,796 to base pair 42,914,432 on chromosome 17.

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 G6PC?

You and your healthcare professional may find the following resources about G6PC helpful.

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

What other names do people use for the G6PC gene or gene products?

  • G6Pase
  • G-6-Pase
  • G6Pase-alpha
  • G6PC_HUMAN
  • glucose-6-phosphatase
  • glucose-6-phosphatase alpha

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 G6PC?

acids ; breakdown ; catalytic ; cell ; endoplasmic reticulum ; enzyme ; expressed ; gene ; gluconeogenesis ; glucose ; glycogen ; molecule ; phosphatase ; phosphate ; protein ; simple sugar ; subunit ; toxic

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, Mansfield BC. Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. Hum Mutat. 2008 Jul;29(7):921-30. doi: 10.1002/humu.20772. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18449899?dopt=Abstract)
  • Hutton JC, O'Brien RM. Glucose-6-phosphatase catalytic subunit gene family. J Biol Chem. 2009 Oct 23;284(43):29241-5. doi: 10.1074/jbc.R109.025544. Epub 2009 Aug 20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19700406?dopt=Abstract)
  • 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)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2538)
  • 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: September 8, 2014