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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.
Read more about gene names and symbols on the About page.
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?
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.
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? 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?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PGK1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
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? in the Handbook.