AMPD3
Description
The AMPD3 gene, located on chromosome 1, encodes for the AMP deaminase 3 enzyme, a crucial component of energy metabolism. This enzyme plays a vital role in the breakdown of adenosine monophosphate (AMP), a key molecule involved in cellular energy production. The AMPD3 gene is expressed in various tissues, particularly skeletal muscle, where it contributes to energy homeostasis during physical activity. Mutations in the AMPD3 gene can lead to a deficiency in AMP deaminase activity, which can manifest in a range of health issues.
Associated Diseases
Did you know?
AMPD3 gene variations are linked to athletic performance, with some individuals possessing specific genetic variants associated with enhanced endurance.
