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Protein Domain : AMP deaminase 1

Primary Identifier  IPR029770 Type  Family
Short Name  AMPD1
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)"[].

0 Child Features

1 Parent Features

5 Protein Domain Regions