抄録
AMP deaminase (AMPD) is an enzyme catalyzing the hydrolytic deamination of AMP and converts it to IMP, and plays an important role in purine matabolism in all eukaryotic cells. In human, two types of hereditary AMPD deficiency have been reported. Muscle AMPD deficiency is found in individuals with metabolic myopathy, while AMPD deficiency in red blood cells is found in asymptomatic individuals. Advances of molecular study in the last decade have revealed multiple gene family encoding AMPD peptides. First, three AMPD genes have been isolated and characterized in humans and rodents. Second, molecuar basis of AMPD deficiency in skeletal muscle and red blood cells has been identified. Regulatory mechanisms on AMPD genes and the relationship between gene regulation and AMPD deficiencies have been also studied. In addition, molecular and subcellular functions of AMPD are being studied. Further studies will clarify new functional aspects of AMPD including interaction to other molecules.
