AMP-deaminase (AMPD) is a large, well-conserved eukaryotic protein that converts AMP to IMP and so plays an important role in purine metabolism []. This entry represents one of the AMPD isoforms, AMPD3. Mutations in AMPD3 gene cause Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE), which is a metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase [, , , ].
