title: [AMPD genes and urate metabolism].
abstract: AMPD (AMP deaminase), an enzyme catalyzing AMP to IMP, plays an important role in purine/urate metabolism. AMPD is encoded in 3 genes for 3 isozymes M, L and E (H), respectively. In humans, 2 AMPD deficiencies have been reported in skeletal muscles (AMPD1 deficiency) and red blood cells (AMPD3 deficiency). AMPD1 deficiency has been found in patients with metabolic myopathy. AMPD regulates important purine nucleotides including ATP, ADP, AMP, IMP et al. Also, AMPD deficiency may change the level of adenosine, an important bioactive molecule. In addition, AMP activated protein kinase (AMPK) activity, controlled by intracellular AMP, has an important role as an energy sensor. Therefore, AMPD may control the systemic metabolic status by changing AMPK activity through the AMP level.
authors.affiliation: Department of Bioscience, National Cardiovascular Center Research Institute.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Morisaki
authors.forename: Takayuki
authors.initials: T
authors.lastname: Morisaki
mesh_terms: D000659:AMP Deaminase / Q000172:deficiency / Q000235:genetics* / Q000502:physiology*; D055372:AMP-Activated Protein Kinases; D000249:Adenosine Monophosphate / Q000378:metabolism*; D000818:Animals; D002384:Catalysis; D004734:Energy Metabolism / Q000235:genetics; D006017:Glycolipids / Q000378:metabolism; D006801:Humans; D007291:Inosine Monophosphate / Q000378:metabolism; D007527:Isoenzymes / Q000235:genetics / Q000502:physiology; D009097:Multienzyme Complexes / Q000502:physiology; D018482:Muscle, Skeletal / Q000201:enzymology / Q000378:metabolism; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000502:physiology; D014527:Uric Acid / Q000378:metabolism*
chemical_list: D006017:Glycolipids; D007527:Isoenzymes; D009097:Multienzyme Complexes; D007291:Inosine Monophosphate; D014527:Uric Acid; D000249:Adenosine Monophosphate; D017346:Protein Serine-Threonine Kinases; D055372:AMP-Activated Protein Kinases; D000659:AMP Deaminase