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FLASH GENE
Symbol ALDH2 contributors: mct/npt - updated : 29-06-2010
HGNC name aldehyde dehydrogenase 2 family (mitochondrial)
HGNC id 404
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , tetramer
HOMOLOGY
interspecies ortholog to murine Aldh2
Homologene
FAMILY
  • aldehyde dehydrogenase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • oxidation of acetaldehyde, putative modifier of the effects of alcohol intake on liver function
  • a key enzyme involved in cytoprotection in the heart (Budas 2009)
  • key mediator of endogenous survival signaling in the heart (suggest possible cardioprotective mechanisms mediated by ALDH2 and discuss potential clinical implications of these findings) (Budas 2009
  • metabolizes toxic biogenic and environmental aldehydes, including the endogenously produced 4-hydroxynonenal (4HNE) and the environmental pollutant acrolein, and also bioactivates nitroglycerin (Perez-Miller 2010)
  • having a role in ethanol metabolism (Perez-Miller 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism alcohol , carbohydrate , other
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    related resource Human Polymorphisms of ALDH Genes
    Susceptibility
  • to alcoholism when associated with ADA2 polymorphism
  • to myocardial infarction
  • to esophageal cancer in heavy drinking patients
  • to alcohol-induced flushing
  • to genotoxicity induced by alcohol drinking
  • to esophageal squamous cell carcinoma (ESCC)
  • Variant & Polymorphism SNP , other
  • GLU 487 LYS increased risk of esophageal cancer in heavy drinking patients
  • SNP rs671, alcohol drinking, and smoking are independent risk factors for ESCC (Cui 2009)
  • associations between ADH1B/ALDH2 polymorphisms and genotoxicity in alcohol drinkers (Ishikawa 2007)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS