ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) [Homo sapiens (human)]
| Gene Symbol | ALDH2 |
| Entrez Gene ID | 217 |
| Full Name | aldehyde dehydrogenase 2 family (mitochondrial) |
| Synonyms | ALDH-E2, ALDHI, ALDM, MGC1806 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
12 12q24.2 |
| 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 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. |
| Disorder | MIM: 100650 Alcohol sensitivity, acute, 610251 (3); {Hangover, susceptibility |
| mRNA | NM_000690, 325910902 |
| Protein | NP_000681, 25777732 |
| Product | aldehyde dehydrogenase, mitochondrial isoform 1 precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_001204889, 325910903 |
| Protein | NP_001191818, 325910904 |
| Product | aldehyde dehydrogenase, mitochondrial Isoform 2 precursor |
| RefSeq Status | REVIEWED |
| hsa00053 | Ascorbate and aldarate metabolism |
| hsa00310 | Lysine degradation |
| hsa00340 | Histidine metabolism |
| hsa00620 | Pyruvate metabolism |
| hsa00330 | Arginine and proline metabolism |
| hsa00380 | Tryptophan metabolism |
| hsa00640 | Propanoate metabolism |
| hsa00280 | Valine, leucine and isoleucine degradation |
| hsa00040 | Pentose and glucuronate interconversions |
| hsa01100 | Metabolic pathways |
| hsa00561 | Glycerolipid metabolism |
| hsa00071 | Fatty acid metabolism |
| hsa00410 | beta-Alanine metabolism |
| hsa00010 | Glycolysis / Gluconeogenesis |
WikiPathways
| WP465 | Tryptophan metabolism |
| WP206 | Fatty Acid Omega Oxidation |
BIOCYC
| META_PWY66-161 | oxidative ethanol degradation II (MEOS) |
| META_PWY66-162 | oxidative ethanol degradation III |
| META_PWY-6342 | noradrenaline and adrenaline degradation |
| META_PWY66-21 | oxidative ethanol degradation I |
| META_PWY-0 | putrescine degradation III |
| META_PWY-6313 | serotonin degradation |
Reactome
| REACT_13705 | Phase 1 - Functionalization of compounds |
| REACT_13477 | Transmission across Chemical Synapses |
| REACT_15391 | Serotonin clearance from the synaptic cleft |
| REACT_13685 | Synaptic Transmission |
| REACT_34 | Ethanol oxidation |
| REACT_13433 | Biological oxidations |
| REACT_15532 | Metabolism of serotonin |
| REACT_13583 | Neurotransmitter Clearance In The Synaptic Cleft |
| Homo sapiens (human) | ALDH2 | NP_000681.2 |
| Pan troglodytes (chimpanzee) | ALDH2 | XP_509379.2 |
| Canis lupus familiaris (dog) | ALDH2 | XP_853628.1 |
| Bos taurus (cattle) | ALDH2 | NP_001068835.1 |
| Mus musculus (house mouse) | Aldh2 | NP_033786.1 |
| Rattus norvegicus (Norway rat) | Aldh2 | NP_115792.1 |
| Gallus gallus (chicken) | ALDH2 | XP_415171.2 |
| Danio rerio (zebrafish) | aldh2b | NP_998466.2 |
| Danio rerio (zebrafish) | aldh2a | NP_956784.1 |
| Danio rerio (zebrafish) | LOC100332355 | XP_002662252.1 |
| Drosophila melanogaster (fruit fly) | Aldh | NP_609285.1 |
| Caenorhabditis elegans | alh-1 | NP_498081.2 |
| Caenorhabditis elegans | alh-2 | NP_503467.1 |
| Arabidopsis thaliana (thale cress) | ALDH2B4 | NP_190383.1 |
| ID | Name | Evidence |
| GO:0001889 | liver development | IEA |
| GO:0005975 | carbohydrate metabolic process | TAS |
| GO:0006066 | alcohol metabolic process | TAS |
| GO:0006069 | ethanol oxidation | TAS |
| GO:0006805 | xenobiotic metabolic process | TAS |
| GO:0007268 | synaptic transmission | TAS |
| GO:0032496 | response to lipopolysaccharide | IEA |
| GO:0032570 | response to progesterone stimulus | IEA |
| GO:0032870 | cellular response to hormone stimulus | IEA |
| GO:0033574 | response to testosterone stimulus | IEA |
| GO:0035094 | response to nicotine | IEA |
| GO:0042136 | neurotransmitter biosynthetic process | TAS |
| GO:0055093 | response to hyperoxia | IEA |
| GO:0071398 | cellular response to fatty acid | IEA |
Component
| ID | Name | Evidence |
| GO:0005739 | mitochondrion | IEA |
| GO:0005759 | mitochondrial matrix | TAS |
Function
| ID | Name | Evidence |
| GO:0004029 | aldehyde dehydrogenase (NAD) activity | TAS |
| GO:0004030 | aldehyde dehydrogenase [NAD(P)+] activity | TAS |
| GO:0009055 | electron carrier activity | TAS |
| GO:0016491 | oxidoreductase activity | IEA |
| GO:0042802 | identical protein binding | IEA |
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