Aldehyde dehydrogenase 6 family member A1 (ALDH6A1)

Aldehyde dehydrogenase 6 family member A1 (ALDH6A1) is a mitochondrial enzyme belonging to the aldehyde dehydrogenase family. It catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to form acetyl-CoA and propionyl-CoA, essential steps in the catabolism of valine and pyrimidine. Mutations in the ALDH6A1 gene cause a rare metabolic disorder—methylmalonate semialdehyde dehydrogenase deficiency—characterized by accumulation of organic acids in urine and variable neurodevelopmental consequences. Reduced expression of ALDH6A1 is linked to enhanced proliferation in certain cancers, indicating its role in tumorigenesis and its potential as a prognostic biomarker. The enzyme is most highly expressed in the kidney and liver, localized to mitochondria, and contributes to energy and intermediary metabolic regulation.

Other names

Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrialMMSDHMalonate-semialdehyde dehydrogenase (acetylating)Mitochondrial acylating methylmalonate-semialdehyde dehydrogenaseMMSADHATesticular tissue protein Li 122

Enzymatic oxidation (targeted drugs would act by modulating its activity, but there is no evidence of current clinical drugs directly targeting this enzyme)