ASS1 (Argininosuccinate synthase 1) [MD427R]

ASS1, also known as argininosuccinate synthase or citrulline-aspartate ligase, catalyzes the penultimate step of the arginine biosynthetic pathway in the urea cycle that is responsible for the synthesis of arginine and the clearance of nitrogenous waste.. This enzyme is essential for the detoxification of ammonia in the liver, converting citrulline and aspartate into argininosuccinate, which is subsequently cleaved to produce arginine and fumarate. Mutations in ASS1 are associated with citrullinemia (CTLN1), an autosomal recessive disorder characterized by severe vomiting spells and cognitive impairments, highlighting the importance of ASS1 in metabolic health. Loss of ASS1 expression is one of the common metabolic alterations observed in many cancers, and it is a prognostic biomarker of reduced metastasis-free survival. ASS1 deficiency leads to the dependence of extracellular arginine for survival, proliferation, and cell growth.