Family

AMP deaminase 3 (IPR029771)

Short name: AMPD3

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, 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 [PMID: 8004104, PMID: 7881427, PMID: 9598089, PMID: 11139257].

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