Description: Homo sapiens aldehyde dehydrogenase 2 family member (ALDH2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000690) RefSeq Summary (NM_000690): 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]. Gencode Transcript: ENST00000261733.7 Gencode Gene: ENSG00000111275.13 Transcript (Including UTRs) Position: hg38 chr12:111,766,933-111,817,532 Size: 50,600 Total Exon Count: 13 Strand: + Coding Region Position: hg38 chr12:111,766,983-111,809,575 Size: 42,593 Coding Exon Count: 13
ID:ALDH2_HUMAN DESCRIPTION: RecName: Full=Aldehyde dehydrogenase, mitochondrial; EC=184.108.40.206; AltName: Full=ALDH class 2; AltName: Full=ALDH-E2; AltName: Full=ALDHI; Flags: Precursor; CATALYTIC ACTIVITY: An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH. PATHWAY: Alcohol metabolism; ethanol degradation; acetate from ethanol: step 2/2. SUBUNIT: Homotetramer. SUBCELLULAR LOCATION: Mitochondrion matrix. POLYMORPHISM: Genetic variation in ALDH2 is responsible for individual differences in responses to drinking alcohol [MIM:610251]. Allele ALDH2*2 is associated with a very high incidence of acute alcohol intoxication in Orientals and South American Indians, as compared to Caucasians. SIMILARITY: Belongs to the aldehyde dehydrogenase family. SEQUENCE CAUTION: Sequence=AAA62825.1; Type=Frameshift; Positions=424, 444, 448, 461; Sequence=CAA68290.1; Type=Frameshift; Positions=Several; Sequence=CAA68290.1; Type=Miscellaneous discrepancy; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ALDH2ID250.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P05091
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004029 aldehyde dehydrogenase (NAD) activity GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity GO:0009055 electron carrier activity GO:0016491 oxidoreductase activity GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0051287 NAD binding