AMP Deaminase 3 (AMPD3) Antibody

Background

AMPD3 is an isoform of AMP deaminase predominantly expressed in erythrocytes (red blood cells), where it catalyzes the conversion of AMP to IMP to regulate ATP and nucleotide levels under energy stress. AMPD3 activity is essential for maintaining erythrocyte energy homeostasis, as it helps sustain ATP levels and prevents the depletion of adenine nucleotides during cellular stress. Mutations in the AMPD3 gene lead to erythrocyte AMP deaminase deficiency, a condition characterized by reduced IMP production and altered ATP metabolism, although most affected individuals remain asymptomatic. AMPD3 has been implicated in hemolytic anemias and other red blood cell disorders where impaired energy metabolism compromises erythrocyte survival and function. Beyond its role in erythrocyte physiology, AMPD3 contributes to systemic purine metabolism and may influence energy balance in other tissues. Its importance in regulating erythrocyte energy levels highlights its critical role in red blood cell longevity and overall cellular energy balance.