AMPD3

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]

Full Name

Adenosine Monophosphate Deaminase 3

Function

AMP deaminase plays a critical role in energy metabolism.

Biological Process

AMP catabolic process Source: ProtInc
AMP metabolic process Source: GO_Central
IMP biosynthetic process Source: GO_Central
IMP salvage Source: UniProtKB-UniPathway
neutrophil degranulation Source: Reactome
purine-containing compound salvage Source: Reactome

Cellular Location

Cytosol; Extracellular region; Ficolin-1-rich granule lumen; Secretory granule lumen

Involvement in disease

Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE): A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders.