AMPD1, also named as MAD and MADA, belongs to the adenosine and AMP deaminases family. AMP deaminase plays a critical role in energy metabolism. It catalyzes the reaction: AMP + H2O = IMP + NH3. Defects in AMPD1 are the cause of adenosine monophosphate deaminase deficiency muscle type(AMPDDM) which is a metabolic disorder resulting in exercise-related myopathy. The antibody is specific to AMPD1.
