AGAP3

AGAP3, also known as Arginase 2, is a protein that in humans is encoded by the AGAP3 gene. This gene is located on chromosome 19q13.3. Arginase is an enzyme that catalyzes the hydrolysis of arginine to ornithine and urea. AGAP3 is one of two known isoforms of arginase in humans, the other being AGAP1. AGAP3 is primarily expressed in the liver, where it plays a crucial role in the urea cycle, a metabolic pathway that helps to detoxify ammonia produced by the breakdown of proteins. The urea cycle is essential for maintaining nitrogen balance in the body. AGAP3 is also expressed in other tissues, including the brain, where it may have a role in neuroprotection and neurogenesis. Mutations in the AGAP3 gene have been associated with a rare genetic disorder called arginase deficiency, which can lead to hyperammonemia, a condition characterized by elevated levels of ammonia in the blood. This can result in neurological symptoms, including coma and death if left untreated. Research on AGAP3 is ongoing, with studies exploring its potential as a therapeutic target for various diseases, including cancer and neurodegenerative disorders.