AMPD3 Polyclonal Antibody

catalytic activity:AMP + H(2)O = IMP + NH(3).,disease:Defects in AMPD3 are the cause of adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]. AMPDDE is 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.,function:AMP deaminase plays a critical role in energy metabolism.,pathway:Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.,similarity:Belongs to the adenosine and AMP deaminases family.,subunit:Homotetramer.,tissue specificity:Three isoforms are present in mammals: AMP deaminase 1 is the predominant form in skeletal muscle; AMP deaminase 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; AMP deaminase 3 is found in erythrocytes.,