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Genetics Home Reference: your guide to understanding genetic conditions
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PGAM2

Reviewed December 2011

What is the official name of the PGAM2 gene?

The official name of this gene is “phosphoglycerate mutase 2 (muscle).”

PGAM2 is the gene's official symbol. The PGAM2 gene is also known by other names, listed below.

What is the normal function of the PGAM2 gene?

The PGAM2 gene provides instructions for making an enzyme called phosphoglycerate mutase. The version of phosphoglycerate mutase produced from this gene is found predominantly in skeletal muscle cells. (Skeletal muscles are the muscles used for movement.) Another version of this enzyme, which is produced from a different gene, is found in many other cells and tissues.

Phosphoglycerate mutase is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. Phosphoglycerate mutase helps carry out a chemical reaction that converts a molecule called 3-phosphoglycerate, which is produced during the breakdown of glucose, to another molecule called 2-phosphoglycerate.

How are changes in the PGAM2 gene related to health conditions?

phosphoglycerate mutase deficiency - caused by mutations in the PGAM2 gene

At least five mutations in the PGAM2 gene have been found to cause phosphoglycerate mutase deficiency. The most common of these mutations, written as Trp78Ter or W78X, replaces the protein building block (amino acid) tryptophan with a premature stop signal in the instructions for making phosphoglycerate mutase. This mutation results in the production of an abnormally short, nonfunctional version of the enzyme. Other mutations change single amino acids in phosphoglycerate mutase.

Mutations in the PGAM2 gene greatly reduce the activity of phosphoglycerate mutase, which disrupts energy production in skeletal muscle cells. This defect underlies the muscle cramping, muscle breakdown, and related signs and symptoms that occur following strenuous exercise in affected individuals.

Where is the PGAM2 gene located?

Cytogenetic Location: 7p13-p12

Molecular Location on chromosome 7: base pairs 44,062,726 to 44,065,586

The PGAM2 gene is located on the short (p) arm of chromosome 7 between positions 13 and 12.

The PGAM2 gene is located on the short (p) arm of chromosome 7 between positions 13 and 12.

More precisely, the PGAM2 gene is located from base pair 44,062,726 to base pair 44,065,586 on chromosome 7.

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 PGAM2?

You and your healthcare professional may find the following resources about PGAM2 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 PGAM2 gene or gene products?

  • BPG-dependent PGAM 2
  • GSD10
  • MGC88743
  • muscle-specific phosphoglycerate mutase
  • PGAM2_HUMAN
  • PGAMM
  • PGAM-M
  • phosphoglycerate mutase 2
  • phosphoglycerate mutase isozyme M

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 PGAM2?

acids ; amino acid ; breakdown ; deficiency ; enzyme ; gene ; glucose ; isozyme ; molecule ; muscle cells ; mutation ; protein ; simple sugar ; skeletal muscle ; tryptophan

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

References

  • DiMauro S, Miranda AF, Khan S, Gitlin K, Friedman R. Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. Science. 1981 Jun 12;212(4500):1277-9. (http://www.ncbi.nlm.nih.gov/pubmed/6262916?dopt=Abstract)
  • Edwards YH, Sakoda S, Schon E, Povey S. The gene for human muscle-specific phosphoglycerate mutase, PGAM2, mapped to chromosome 7 by polymerase chain reaction. Genomics. 1989 Nov;5(4):948-51. (http://www.ncbi.nlm.nih.gov/pubmed/2556344?dopt=Abstract)
  • Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S. Muscle phosphoglycerate mutase deficiency revisited. Arch Neurol. 2009 Mar;66(3):394-8. doi: 10.1001/archneurol.2008.584. (http://www.ncbi.nlm.nih.gov/pubmed/19273759?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5224)
  • Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet. 1993 Mar;52(3):472-7. (http://www.ncbi.nlm.nih.gov/pubmed/8447317?dopt=Abstract)
  • Tsujino S, Shanske S, Sakoda S, Toscano A, DiMauro S. Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency. Muscle Nerve Suppl. 1995;3:S50-3. (http://www.ncbi.nlm.nih.gov/pubmed/7603528?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: July 28, 2014