Alpha-aminoadipic semialdehyde synthase, mitochondrial (AASS) Antibody

Background

Alpha-aminoadipic semialdehyde synthase (AASS) is a bifunctional mitochondrial enzyme involved in the lysine degradation pathway. It catalyzes two sequential reactions: the oxidation of lysine to saccharopine via its lysine-ketoglutarate reductase activity and the subsequent conversion of saccharopine to alpha-aminoadipic semialdehyde via saccharopine dehydrogenase activity. This pathway plays a crucial role in amino acid catabolism and the production of acetyl-CoA, linking it to energy metabolism and the tricarboxylic acid (TCA) cycle. AASS is essential for maintaining lysine homeostasis and energy production, particularly under conditions of low glucose availability. Mutations in the AASS gene can lead to hyperlysinemia, a metabolic disorder characterized by elevated lysine levels in the blood and associated neurological symptoms. Emerging studies suggest AASS may also play a regulatory role in mitochondrial function and oxidative stress responses.