8dda
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Crystal structure of human aminoadipate semialdehyde synthase (AASS), lysine ketoglutarate reductase (LKR) domain
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Structural highlights
DiseaseAASS_HUMAN Hyperlysinemia;Saccharopinuria. The disease is caused by mutations affecting the gene represented in this entry. The protein represented in this entry is involved in disease pathogenesis. A selective decrease in mitochondrial NADP(H) levels due to NADK2 mutations causes a deficiency of NADPH-dependent mitochondrial enzymes, such as DECR1 and AASS.[1] FunctionAASS_HUMAN Bifunctional enzyme that catalyzes the first two steps in lysine degradation. The N-terminal and the C-terminal contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively. References
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This page was last modified 05:40, 5 July 2023.