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Reviewed February 2007
What is the official name of the PRKAG2 gene?
The official name of this gene is “protein kinase, AMP-activated, gamma 2 non-catalytic subunit.”
PRKAG2 is the gene's official symbol. The PRKAG2 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 PRKAG2 gene?
The PRKAG2 gene provides instructions for making one part (the gamma-2 subunit) of a larger enzyme called AMP-activated protein kinase (AMPK). This enzyme helps sense and respond to energy demands within cells. It is active in many different tissues, including heart (cardiac) muscle and muscles used for movement (skeletal muscles). AMP-activated protein kinase is likely involved in the development of the heart before birth, although its role in this process is unknown.
AMP-activated protein kinase regulates chemical pathways involving the cell's main energy source, a molecule called adenosine triphosphate (ATP). The breakdown of ATP releases energy to drive many types of chemical reactions. AMP-activated protein kinase is activated during times of cellular stress (such as low oxygen levels or muscle exercise), when ATP is broken down rapidly to produce energy. If ATP levels become too low, the enzyme restores the balance of energy by limiting chemical reactions that require ATP and stimulating pathways that generate ATP.
Studies suggest that AMP-activated protein kinase may play a role in controlling the activity of other genes, although many of these genes have not been identified. The enzyme may also regulate the activity of certain ion channels in the heart. These channels, which transport positively charged atoms (ions) into and out of heart muscle cells, play critical roles in maintaining the heart's normal rhythm.
How are changes in the PRKAG2 gene related to health conditions?
Genetics Home Reference provides information about familial hypertrophic cardiomyopathy, which is also associated with changes in the PRKAG2 gene.
Where is the PRKAG2 gene located?
Cytogenetic Location: 7q36.1
Molecular Location on chromosome 7: base pairs 151,556,113 to 151,877,230
The PRKAG2 gene is located on the long (q) arm of chromosome 7 at position 36.1.
More precisely, the PRKAG2 gene is located from base pair 151,556,113 to base pair 151,877,230 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PRKAG2?
You and your healthcare professional may find the following resources about PRKAG2 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 PRKAG2 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 PRKAG2?
acids ; adenosine triphosphate ; amino acid ; ATP ; cardiac ; cardiomyopathy ; cell ; congenital ; enzyme ; familial ; gene ; glycogen ; heart failure ; hypertrophic ; ions ; kinase ; molecule ; mutation ; oxygen ; protein ; respiratory ; skeletal muscle ; stress ; subunit ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.