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aass

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Official Full Name
aminoadipate-semialdehyde synthase
Background
This gene encodes 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.
Synonyms
AASS; aminoadipate-semialdehyde synthase; alpha-aminoadipic semialdehyde synthase, mitochondrial; LKRSDH; LORSDH; lysine-2-oxoglutarate reductase; aminoadipic semialdehyde synthase; alpha-aminoadipate semialdehyde synthase; lysine-ketoglutarate reductase

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