Mitochondrial succinate semialdehyde dehydrogenase (ALDH5A1) tetramer catalyzes the reaction of succinate semialdehyde (SUCCSA), H2O, and NAD+ to form succinate (SUCCA) and NADH + 2 H+ (Kim et al. 2009). Mutations that inactivate this gene cause 4-hydroxybutyric aciduria (succinic semialdehyde dehydrogenase deficiency) (Chambliss et al. 1998).
Kim, YG, Lee, S, Kwon, OS, Park, SY, Lee, SJ, Park, BJ, Kim, KJ
Chambliss, KL, Hinson, DD, Trettel, F, Malaspina, P, Novelletto, A, Jakobs, C, Gibson, KM
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