基因名：
AASS
产品别名：
LKR/SDH； LKRSDH； LORSDH； AASS； aminoadipate-semialdehyde synthase； aminoadipate-semialdehyde synthase； alpha-aminoadipic semialdehyde synthase, mitochondrial； alpha-aminoadipate semialdehyde synthase； aminoadipic semialdehyde synthase； lysine-2-oxoglutarate reductase； lysine-ketoglutarate reductase /saccharopine dehydrogenase； 氨基乙二酸半醛合酶(AASS)； 赖氨酸酮戊二酸还原酶；
背景信息：
Alpha-aminoadipic semialdehyde synthase (AASS), also designated lysine ketoglutarate reductase (LKR) or saccharopine dehydrogenase (SDH), is a 926 amino acid protein that exists as a homodimer in the mitochondria. AASS acts as a bifunctional enzyme containing the lysine alpha-ketoglutarate reductase (LKR) and saccharopine dehydrogenase activities that catalyzes the first two steps in lysine degradation. It is widely expressed with highest expression in liver and transcription of the AASS gene is induced upon starvation. Mutations in the gene encoding AASS result in various forms familial hyperlysinemias (FH), autosomal recessive disorders characterized by hyperlysinemia, lysinuria, and variable saccharopinuria. However, no adverse mental or physical effects have been found in patients with hyperlysinemia.
