MitoSciences: Aldehyde dehydrogenase, mitochondrial (ALDH2)

UniProt Number:	P05091
Alternate Names:	ALDH class 2, ALDHI, ALDH-E2, ALDM
Structure and Function:	This enzyme belongs to the aldehyde dehydrogenase family of enzymes which catalyzes the chemical transformation from acetaldehyde to acetic acid. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism.
Disease Associations:	Genetic variation in ALDH2 is responsible for individual differences in responses to drinking alcohol [MIM:610251]. Most Caucasians have two major isozymes, while approximately 50% of Asians have one normal copy of the ALDH2 gene and one mutant copy that encodes an inactive mitochondrial isoenzyme. A remarkably higher frequency of acute alcohol intoxication among Asians than among Caucasians has been repeatedly shown to be related to the very much reduced activity of the mutant ALDH2-2 isoenzyme.