ALDH2 aldehyde dehydrogenase 2 family member
Gene ID: 217, updated on 29-Oct-2024Gene type: protein coding
Also known as: ALDM; ALDHI; ALDH-E2
- See all available tests in GTR for this gene
- Go to complete Gene record for ALDH2
- Go to Variation Viewer for ALDH2 variants
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 East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians 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, Nov 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population. GeneReviews: Not available | |
| A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese. GeneReviews: Not available | |
| A genome-wide association study of a coronary artery disease risk variant. GeneReviews: Not available | |
| A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. GeneReviews: Not available | |
| Alcohol sensitivity, acute | See labs |
| ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample. GeneReviews: Not available | |
| Common variants at 12q24 are associated with drinking behavior in Han Chinese. GeneReviews: Not available | |
| Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population. GeneReviews: Not available | |
| Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. GeneReviews: Not available | |
| Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. GeneReviews: Not available | |
| Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. GeneReviews: Not available | |
| Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA. GeneReviews: Not available | |
| Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. GeneReviews: Not available | |
| Genome-wide association study of coronary artery disease in the Japanese. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. GeneReviews: Not available |
Genomic context
- Location:
- 12q24.12
- Sequence:
- Chromosome: 12; NC_000012.12 (111766933..111817532)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ALDH2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Aldehyde Dehydrogenase Gene Superfamily Resource
- ALDH2 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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