PRKAG2

PRKAG2 is a gene that provides instructions for making a protein that is part of a larger protein complex known as AMP-activated protein kinase (AMPK). This complex plays a key role in regulating energy balance within cells. The PRKAG2 protein is one of three subunits that make up the AMPK complex. This subunit is involved in sensing the level of energy in cells and helping to turn on AMPK when energy is low.

Function[edit | edit source]

The PRKAG2 gene provides instructions for making a protein that is part of a larger protein complex known as AMP-activated protein kinase (AMPK). This complex plays a key role in regulating energy balance within cells. The PRKAG2 protein is one of three subunits that make up the AMPK complex. This subunit is involved in sensing the level of energy in cells and helping to turn on AMPK when energy is low.

Clinical significance[edit | edit source]

Mutations in the PRKAG2 gene cause a rare inherited heart condition known as PRKAG2 syndrome. This condition is characterized by a type of heart disease called hypertrophic cardiomyopathy, which causes the heart muscle to become abnormally thick. People with PRKAG2 syndrome also have a high risk of developing abnormal heart rhythms (arrhythmia) and may have other features such as mild intellectual disability or muscle weakness.

Genetics[edit | edit source]

The PRKAG2 gene is located on the short (p) arm of chromosome 7 at position 36.1. More precisely, the PRKAG2 gene is located from base pair 14,809,346 to base pair 14,872,255 on chromosome 7.

References[edit | edit source]

External links[edit | edit source]

PRKAG2 at the National Institutes of Health's Genetics Home Reference

PRKAG2 Resources
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