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14-September-2008 18:38:50 - ALDH2 Aldehyde dehydrogenase 2 family mitochondrial PDB rendering based on 1a4z. Available structures: 1a4z, 1ag8, 1cw3, 1nzw, 1nzx, 1nzz, 1o00, 1o01, 1o02, 1o04, 1o05, 1of7, 1zum, 2onm, 2onn, 2ono, 2onp Identifiers Symbols ALDH2; ALDH-E2; ALDHI; ALDM; MGC1806 External IDs OMIM: 100650 MGI: 99600 HomoloGene: 55480 EC number 1.2.1.3 Gene ontology Molecular function: aldehyde dehydrogenase NAD activity aldehyde dehydrogenase NADP+ activity electron carrier activity oxidoreductase activity Cellular component: mitochondrion Biological process: carbohydrate metabolic process alcohol metabolic process metabolic process RNA expression pattern More reference expression data Orthologs Human Mouse Entrez 217 11669 Ensembl ENSG00000111275 ENSMUSG00000029455 Uniprot P05091 Q3TVM2 Refseq NM_000690 mRNA NP_000681 protein NM_009656 mRNA NP_033786 protein Location Chr 12: 110.69 - 110.73 Mb Chr 5: 121.83 - 121.85 Mb Pubmed search 1 2 Aldehyde dehydrogenase 2 family mitochondrial, also known as ALDH2, is a human gene found on chromosome 12.12 Contents 1 Function 2 Isoforms 3 Clinical significance 4 See also 5 References 6 Further reading 7 External links Function The enzyme encoded by this gene belongs to the aldehyde dehydrogenase family of enzymes which catalyze the chemical transformation from acetaldehyde to acetic acid. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. acetaldehyde acetic acid Chemical structure of the ALDH2 activator Alda-1. Isoforms Two major liver isoforms of this enzyme, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix.3 Clinical significance Most Caucasians have two major isozymes, while approximately 50% of Asians have only the cytosolic isozyme, missing the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Asians than among Caucasians could be related to the absence of the mitochondrial isozyme.3 An activator of ALDH2 enzymatic activity, Alda-1 N-1,3-benzodioxol-5-ylmethyl-2,6-dichlorobenzamide, has been shown to reduce ischemia-induced cardiac damage caused by myocardial infarction.4 See also Acetaldehyde dehydrogenase References ^ Yoshida A, Ikawa M, Hsu LC, Tani K 1985. Molecular abnormality and cDNA cloning of human aldehyde dehydrogenases. Alcohol 2 1: 103-6. doi:10.1016/0741-83298590024-2. PMID 4015823. ^ Hsu LC, Tani K, Fujiyoshi T, Kurachi K, Yoshida A June 1985. Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. Proc. Natl. Acad. Sci. U.S.A. 82 11: 3771-5. PMID 2987944. PMC:397869. ^ a b Entrez Gene: ALDH2 aldehyde dehydrogenase 2 family mitochondrial. ^ Chen C-H, Budas, GR, Churchill EN, Disatnik M-H, Hurley TD, Mochly-Rosen D September 2008. Activation of Aldehyde Dehydrogenase-2 Reduces Ischemic Damage to the Heart. Science 321 5895: 1493 - 1495. doi:10.1126/science.1158554. Further reading Yoshida A 1993. Molecular genetics of human aldehyde dehydrogenase.. Pharmacogenetics 2 4: 139-47. PMID 1306115. Chao YC, Liou SR, Tsai SF, Yin SJ 1994. Dominance of the mutant ALDH22 allele in the expression of human stomach aldehyde dehydrogenase-2 activity.. Proc. Natl. Sci. Counc. Repub. China B 17 3: 98-102. PMID 8290656. Seitz HK, Meier P 2007. The role of acetaldehyde in upper digestive tract cancer in alcoholics.. Translational research : the journal of laboratory and clinical medicine 149 6: 293-7. doi:10.1016/j.trsl.2006.12.002. PMID 17543846. Crabb DW, Edenberg HJ, Bosron WF, Li TK 1989. Genotypes for aldehyde dehydrogenase deficiency and alcohol sensitivity. The inactive ALDH22 allele is dominant.. J. Clin. Invest. 83 1: 314-6. PMID 2562960. Hsu LC, Bendel RE, Yoshida A 1988. Genomic structure of the human mitochondrial aldehyde dehydrogenase gene.. Genomics 2 1: 57-65. PMID 2838413. Hsu LC, Tani K, Fujiyoshi T, et al. 1985. Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2.. Proc. Natl. Acad. Sci. U.S.A. 82 11: 3771-5. PMID 2987944. Braun T, Grzeschik KH, Bober E, et al. 1986. The structural gene for the mitochondrial aldehyde dehydrogenase maps to human chromosome 12.. Hum. Genet. 73 4: 365-7. PMID 3017845. Braun T, Bober E, Singh S, et al. 1987. Isolation and sequence analysis of a full length cDNA clone coding for human mitochondrial aldehyde dehydrogenase.. Nucleic Acids Res. 15 7: 3179. PMID 3562250. Braun T, Bober E, Singh S, et al. 1987. Evidence for a signal peptide at the amino-terminal end of human mitochondrial aldehyde dehydrogenase.. FEBS Lett. 215 2: 233-6. PMID 3582651. Agarwal DP, Goedde HW 1987. Human aldehyde dehydrogenase isozymes and alcohol sensitivity.. Isozymes Curr. Top. Biol. Med. Res. 16: 21-48. PMID 3610592. Hempel J, Höög JO, Jörnvall H 1987. Mitochondrial aldehyde dehydrogenase. Homology of putative targeting sequence to that of carbamyl phosphate synthetase I revealed by correlation of cDNA and protein data.. FEBS Lett. 222 1: 95-8. PMID 3653404. Yoshida A, Ikawa M, Hsu LC, Tani K 1985. Molecular abnormality and cDNA cloning of human aldehyde dehydrogenases.. Alcohol 2 1: 103-6. PMID 4015823. Hempel J, Kaiser R, Jörnvall H 1985. Mitochondrial aldehyde dehydrogenase from human liver. Primary structure, differences in relation to the cytosolic enzyme, and functional correlations.. Eur. J. Biochem. 153 1: 13-28. PMID 4065146. Yoshida A, Huang IY, Ikawa M 1984. Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals.. Proc. Natl. Acad. Sci. U.S.A. 81 1: 258-61. PMID 6582480. Xiao Q, Weiner H, Johnston T, Crabb DW 1995. The aldehyde dehydrogenase ALDH22 allele exhibits dominance over ALDH21 in transduced HeLa cells.. J. Clin. Invest. 96 5: 2180-6. PMID 7593603. Maruyama K, Sugano S 1994. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.. Gene 138 1-2: 171-4. PMID 8125298. Novoradovsky A, Tsai SJ, Goldfarb L, et al. 1996. Mitochondrial aldehyde dehydrogenase polymorphism in Asian and American Indian populations: detection of new ALDH2 alleles.. Alcohol. Clin. Exp. Res. 19 5: 1105-10. PMID 8561277. Xiao Q, Weiner H, Crabb DW 1997. The mutation in the mitochondrial aldehyde dehydrogenase ALDH2 gene responsible for alcohol-induced flushing increases turnover of the enzyme tetramers in a dominant fashion.. J. Clin. Invest. 98 9: 2027-32. PMID 8903321. External links MeSH ALDH2+protein,+human This biochemistry article is a stub. v d e Aldehyde/oxo oxidoreductases EC 1.2 1.2.1 - NAD or NADP acceptor Aldehyde dehydrogenase: Acetaldehyde dehydrogenase ALDH2 - Long-chain-aldehyde dehydrogenase Glyceraldehyde 3-phosphate dehydrogenase 1.2.4 - disulfide acceptor Oxoglutarate dehydrogenase - Pyruvate dehydrogenase - Branched-chain alpha-keto acid dehydrogenase complex v d e Mitochondrial enzymes and transporters Outer membrane fatty acid degradation Carnitine palmitoyltransferase I, Long fatty acyl CoA synthetase tryptophan metabolism Kynureninase monoamine neurotransmitter metabolism Monoamine oxidase Intermembrane space Adenylate kinase - Creatine kinase Inner membrane oxidative phosphorylation Coenzyme Q - cytochrome c reductase, Cytochrome c, NADH dehydrogenase, Succinate dehydrogenase pyrimidine metabolism Dihydroorotate dehydrogenase mitochondrial shuttle Malate-aspartate shuttle, Glycerol phosphate shuttle other Glutamate aspartate transporter, Glycerol-3-phosphate dehydrogenase, ATP synthase, Carnitine palmitoyltransferase II Matrix citric acid cycle Citrate synthase, Aconitase, Isocitrate dehydrogenase, Oxoglutarate dehydrogenase, Succinyl coenzyme A synthetase, Fumarase, Malate dehydrogenase anaplerotic reactions Aspartate transaminase, Glutamate dehydrogenase, Pyruvate dehydrogenase complex urea cycle Carbamoyl phosphate synthetase I, Ornithine transcarbamylase, N-Acetylglutamate synthase alcohol metabolism ALDH2 Other/to be sorted Cholesterol side-chain cleavage enzyme Mitochondrial DNA Complex I 7 units - Complex III 1 unit - Complex IV 3 units - ATP synthase 2 units Retrieved from http://en..org/wiki/ALDH2 Categories: Genes on chromosome 12 | Human proteins | Biochemistry stubs | EC 1.2.1 Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page This page was last modified on 13 September 2008, at 05:44
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