AMP deaminase plays a critical role in energy metabolism. Defects in AMPD1 are the cause of adenosine monophosphate deaminase deficiency muscle type (AMPDDM). AMPDDM is a metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue. Belongs to the adenosine and AMP deaminases family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC 188.8.131.52; Hydrolase; Nucleotide Metabolism - purine