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Pathogenic mutations in SDR5C1 affect its dehydrogenase activity. The l-3-hydroxyacyl-CoA dehydrogenase activity of wild-type (WT) and mutant SDR5C1 was measured with acetoacetyl-CoA as substrate and NADH as cofactor. An active-site mutant (K172A) was included as ‘dehydrogenase-dead’ control. Means and SD of three independent experiments are shown (***P < 0.001).
