Cytosolic argininosuccinate synthase catalyzes the reaction of aspartate, citrulline, and ATP to form argininosuccinate, AMP, and pyrophosphate. The function of the human enzyme in vivo is inferred from the hypercitrullinemia observed in patients with defective forms of the enzyme (e.g., Engel et al. 2009). The enzyme is active as a homotetramer (Oâ??Brien 1980; Karlberg et al. 2008).
|ASS1 tetramer||argininosuccinate synthase activity (0004055)|
|19006241||Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene||Hum Mutat||2009|
|18323623||Structure of human argininosuccinate synthetase||Acta Crystallogr D Biol Crystallogr||2008|
|518841||Isolation and characterization of argininosuccinate synthetase from human liver.||Biochemistry||1980|