AMPD1 encodes adenosine monophosphate deaminase 1, a cytosolic hydrolase that catalyzes AMP deamination and plays a critical role in energy metabolism 1. The enzyme participates in purine nucleotide salvage and biosynthetic pathways, including IMP salvage and GMP salvage processes, thereby regulating nucleotide homeostasis and ATP production during muscle contraction 1. The common C34T polymorphism (rs17602729) produces a nonsense mutation causing AMPD1 protein deficiency, which influences exercise performance and fatigue resistance during high-intensity exercise 1. Individuals homozygous for the wild-type C allele show increased frequency among elite endurance and power athletes, suggesting the CC genotype confers a 1.72-2.17 times greater likelihood of achieving elite athlete status 1. In cardiovascular disease patients, the T allele carriers (CT/TT genotypes) demonstrate protective effects including elevated left ventricular ejection fraction and reduced blood pressure compared to CC genotype carriers 2. AMPD1 mutations are associated with altered glucose metabolism and obesity risk; specifically, the C34T mutation correlates with reduced diabetes prevalence while the A860T variant associates with increased abdominal obesity 3. AMPD1 serves as a transcriptional target of SRC-3 in breast cancer, potentially contributing to metabolic reprogramming and tumor progression 4. Rare AMPD1 deficiency causes myopathy characterized by exercise intolerance 5.