ALDH2 (E504K) (ALDH2) Human Recombinant Protein

This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011]

ALDH2: This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011]

Protein type: Lipid Metabolism - glycerolipid; Lipid Metabolism - fatty acid; Secondary Metabolites Metabolism - limonene and pinene degradation; Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 1.2.1.3; Amino Acid Metabolism - histidine; Carbohydrate Metabolism - ascorbate and aldarate; Mitochondrial; Carbohydrate Metabolism - propanoate; Oxidoreductase; Amino Acid Metabolism - arginine and proline; Carbohydrate Metabolism - pyruvate; Amino Acid Metabolism - tryptophan; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Other Amino Acids Metabolism - beta-alanine; Amino Acid Metabolism - lysine degradation; Carbohydrate Metabolism - butanoate

Chromosomal Location of Human Ortholog: 12q24.2

Cellular Component: mitochondrial matrix

Molecular Function: aldehyde dehydrogenase (NAD) activity; electron carrier activity; aldehyde dehydrogenase [NAD(P)+] activity

Biological Process: synaptic transmission; ethanol catabolic process; xenobiotic metabolic process; alcohol metabolic process; carbohydrate metabolic process; ethanol oxidation; neurotransmitter biosynthetic process

Disease: Alcohol Sensitivity, Acute