ALDH2
LOCUS ID217
GENE_SYMBOLALDH2
GENE NAMEaldehyde dehydrogenase 2 family (mitochondrial)
SYNONYMNSALDM, ALDHI, ALDH-E2
CHROMOSOME12
HOMOLOGENE ID55480
microRNAsNANA
GENE SUMMARY
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 ictive 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. Altertive splicing results in

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. We speculated that protein kinase C isoforms up-regulated by 4-hydroxynonel that was detoxified by ALDH2 and ADH2 may account for the long-term development of diabetic nephropathy and severe retinopathy.15318096
Cardiovascular1. ALDH2 polymorphism is associated with an increased risk of T2DM in female CAD patients, and this association could be causal on the basis of the association between the polymorphism and FPG, which is partly explained by an increased inflammatory status.19876063
Neuropathy1. Increased tissue levels of toxic aldehyde could result from inactive ALDH2 and usual ADH2 expression, which results in the increased level of reactive aldehyde in sensory neuron pathway, thereby causing symptomatic polyneuropathy.15318096
Retinopathy1. To the best of our knowledge, this is the first report of a significant association between the ALDH2*2 allele and the incidence of DR.24028448