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PGK1 gene

phosphoglycerate kinase 1
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Normal Function

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.

Health Conditions Related to Genetic Changes

Phosphoglycerate kinase deficiency

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.

More About This Health Condition

Other Names for This Gene

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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Beutler E. PGK deficiency. Br J Haematol. 2007 Jan;136(1):3-11. Review. Citation on PubMed
  • 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. Citation on PubMed
  • 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]. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
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