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Genetics Home Reference: your guide to understanding genetic conditions
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PGK1

Reviewed December 2011

What is the official name of the PGK1 gene?

The official name of this gene is “phosphoglycerate kinase 1.”

PGK1 is the gene's official symbol. The PGK1 gene is also known by other names, listed below.

What is the normal function of the PGK1 gene?

The PGK1 gene provides instructions for making an enzyme called phosphoglycerate kinase. This enzyme is found in cells and tissues throughout the body, where it is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy.

Phosphoglycerate kinase helps carry out a chemical reaction that converts a molecule called 1,3-diphosphoglycerate, which is produced during the breakdown of glucose, to another molecule called 3-phosphoglycerate. This reaction generates one molecule of adenosine triphosphate (ATP), which is the main energy source in cells.

Researchers suspect that phosphoglycerate kinase may have additional functions, although little is known about the other roles this enzyme may play in cells.

How are changes in the PGK1 gene related to health conditions?

phosphoglycerate kinase deficiency - caused by mutations in the PGK1 gene

At least 18 mutations in the PGK1 gene have been found to cause phosphoglycerate kinase deficiency. In some affected individuals, this condition causes a shortage of red blood cells (chronic hemolytic anemia) with or without neurological symptoms. In others, the condition is characterized by muscle weakness and cramping.

Most PGK1 gene mutations change single protein building blocks (amino acids) in phosphoglycerate kinase. A few other types of mutations, including insertions and deletions of a small amount of DNA in the PGK1 gene, have also been reported. Studies suggest that PGK1 gene mutations reduce the activity of phosphoglycerate kinase, which disrupts normal energy production and leads to cell damage or cell death. It is unclear why this abnormality preferentially affects red blood cells and brain cells in some people and muscle cells in others. Researchers speculate that different PGK1 gene mutations may have varying effects on the activity of phosphoglycerate kinase in different types of cells.

Where is the PGK1 gene located?

Cytogenetic Location: Xq13.3

Molecular Location on the X chromosome: base pairs 78,104,168 to 78,126,826

The PGK1 gene is located on the long (q) arm of the X chromosome at position 13.3.

The PGK1 gene is located on the long (q) arm of the X chromosome at position 13.3.

More precisely, the PGK1 gene is located from base pair 78,104,168 to base pair 78,126,826 on the X chromosome.

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 PGK1?

You and your healthcare professional may find the following resources about PGK1 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 PGK1 gene or gene products?

  • cell migration-inducing gene 10 protein
  • MGC117307
  • MGC142128
  • MGC8947
  • MIG10
  • PGK1_HUMAN
  • PGKA
  • primer recognition protein 2
  • PRP 2

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 PGK1?

acids ; adenosine triphosphate ; anemia ; ATP ; breakdown ; cell ; chronic ; deficiency ; DNA ; enzyme ; gene ; glucose ; hemolytic anemia ; kinase ; molecule ; muscle cells ; neurological ; primer ; protein ; simple sugar

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • Beutler E. PGK deficiency. Br J Haematol. 2007 Jan;136(1):3-11. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17222195?dopt=Abstract)
  • Flanagan JM, Rhodes M, Wilson M, Beutler E. The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA. Br J Haematol. 2006 Jul;134(2):233-7. Epub 2006 Jun 1. (http://www.ncbi.nlm.nih.gov/pubmed/16740138?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5230)
  • Noel N, Flanagan JM, Ramirez Bajo MJ, Kalko SG, Mañú Mdel M, Garcia Fuster JL, Perez de la Ossa P, Carreras J, Beutler E, Vives Corrons JL. Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain. Br J Haematol. 2006 Feb;132(4):523-9. Erratum in: Br J Haematol. 2006 May;133(4):451. Flanagan, John [corrected to Flanagan, Jonathan M]; Perez de la Ossa, Pablo [added]; Carreras, Josep [added]. (http://www.ncbi.nlm.nih.gov/pubmed/16412025?dopt=Abstract)
  • Spiegel R, Gomez EA, Akman HO, Krishna S, Horovitz Y, DiMauro S. Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations. Neuromuscul Disord. 2009 Mar;19(3):207-11. doi: 10.1016/j.nmd.2008.12.004. Epub 2009 Jan 20. (http://www.ncbi.nlm.nih.gov/pubmed/19157875?dopt=Abstract)
  • Svaasand EK, Aasly J, Landsem VM, Klungland H. Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency. Muscle Nerve. 2007 Nov;36(5):679-84. (http://www.ncbi.nlm.nih.gov/pubmed/17661373?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: December 2011
Published: August 24, 2015