AMP deaminase 1 (AMPD1) Antibody (Biotin)

Background

AMPD1 is a key enzyme in the purine nucleotide cycle that catalyzes the deamination of adenosine monophosphate (AMP) to inosine monophosphate (IMP), releasing ammonia as a byproduct. AMPD1 is primarily expressed in skeletal muscle and plays a critical role in energy metabolism by regulating adenine nucleotide levels during high-energy demands such as intense exercise. This activity helps replenish ATP levels through the recycling of IMP and promotes the balance of cellular energy homeostasis. Mutations in the AMPD1 gene can lead to AMP deaminase deficiency, also known as myoadenylate deaminase deficiency (MADD), a metabolic disorder characterized by muscle weakness, fatigue, and exercise intolerance. AMPD1 deficiency affects ATP production and disrupts normal purine metabolism, although many individuals remain asymptomatic. AMPD1 is also implicated in conditions like metabolic myopathies and has been studied for its role in enhancing exercise recovery and performance. Its regulation of energy metabolism highlights its importance in maintaining muscle function under stress.