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AASS / LKR / SDH is a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia.
Gene Name: | aminoadipate-semialdehyde synthase |
Synonyms: | AASS, LKRSDH, LKR/SDH, LORSDH |
Target Sequences: | NM_005763 NP_005754.2 Q9UDR5 |
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