Description
Arginase is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. The isoform encoded by ARG1, referred to as the liver, or A-I, isoform, contributes 98% of the arginase activity in liver but is also present in red cells. Using a rat ARG1 cDNA clone to probe a human liver cDNA library, Haraguchi et al.(1987) isolated and characterized a cDNA corresponding to the gene. By immunologic studies, 90% of the arginase in red blood cells and liver was precipitated by an Arginase 1 antibody, whereas only 50% of the arginase in kidney, brain, and the gastrointestinal tract reacted with it. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene