AMPD3 Antibody

AMPD3 is a member of the AMP deaminase gene family. It 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 the gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. [RefSeq]