Article
Structure-function analyses of the G729R 2-oxoadipate dehydrogenase genetic variant associated with a disorder of l-lysine metabolism.
The Journal of biological chemistry - 5 Jun 2020
Zhang Xu, Nemeria Natalia S, Leandro João, Houten Sander, Lazarus Michael, Gerfen Gary, Ozohanics Oliver, Ambrus Attila, Nagy Balint, Brukh Roman, Jordan Frank
Abstract excerpt
2-Oxoadipate dehydrogenase (E1a, also known as DHTKD1, dehydrogenase E1, and transketolase domain-containing protein 1) is a thiamin diphosphate-dependent enzyme and part of the 2-oxoadipate dehydrogenase complex (OADHc) in l-lysine catabolism. Genetic findings have linked mutations in the DHTKD1 gene to several metabolic disorders. These include α-aminoadipic and α-ketoadipic aciduria (AMOXAD), a rare disorder...
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