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PRKAG2
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs1370326259 | |||
| rs141203544 | |||
| rs142735513 | |||
| rs145111365 | |||
| rs184338009 | |||
| rs189641407 | |||
| rs192148633 | |||
| rs28496834 | |||
| rs531492097 | |||
| rs535145883 | |||
| rs541649131 | |||
| rs564181360 | |||
| rs75338652 | |||
| rs11361447 | |||
| rs4726071 | |||
| rs4726095 | |||
| rs57194047 | |||
| rs140411788 | |||
| rs1056766269 | |||
| rs113922229 |
Find on This Page
Summary
PRKAG2 encodes protein kinase AMP-activated non-catalytic subunit gamma 2, a part of the AMPK enzyme. Variants of PRKAG2 may play a role in blood pressure by disrupting AMPK. Lifestyle, diet, and supplement modifications may counteract the effects of these variants by promoting AMPK activation.
Protein names
Found in These Blog Articles
GHR Function
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.
More Information
The PRKAG2 gene encodes part of AMPK, an important enzyme for energy metabolism. Mutations that increase PRKAG2 gene expression do not necessarily increase AMPK; one such variant is associated with high blood pressure.
The PRKAG2 gene encodes protein kinase AMP-activated non-catalytic subunit gamma 2, also abbreviated PRKAG2. This protein is part of a larger enzyme called AMP-activated protein kinase, or AMPK, which is mainly known as an energy sensor and a regulator of metabolism [R].
AMPK in the hypothalamus senses how much energy we have in the body (in the form of ATP). It increases energy expenditure and can also increase appetite (when it is activated in the hypothalamus) [R].
When cellular energy is low, AMPK is activated and targets a range of processes. Overall, AMPK activation increases energy production and decreases energy usage [R].
Mutations in this gene cause a condition called PRKAG2 syndrome, an inherited disease that causes an enlarged heart and irregularities in heart function. People with PRKAG2 syndrome may also suffer from high blood pressure that starts in adolescence, suggesting that the PRKAG2 gene affects the circulatory system beyond the heart [R, R, R].
In fact, at least one variant in the PRKAG2 gene has been associated with high blood pressure specifically. According to one study, the ‘G’ allele of rs10224002 was associated with both high blood pressure and increased expression of PRKAG2 [R, R, R].
AMPK activation has generally been found to decrease blood pressure. Thus, the increased expression of PRKAG2 does not appear to increase AMPK in turn, despite encoding a part of this enzyme [R].
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