Type: | Family | Name: | AMP deaminase 1 |
Description: | 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, AMPD1. Mutations in the AMPD1 gene cause a disease named "Myopathy due to myoadenylate deaminase deficiency (MMDD)" []. | Short Name: | AMPD1 |