Family

AMP deaminase 1 (IPR029770)

Short name: AMPD1

Family relationships

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 [PMID: 18493842].

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)" [PMID: 11102975].

GO terms

Biological Process

GO:0032264 IMP salvage

Molecular Function

GO:0003876 AMP deaminase activity

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER