Atlas of Genetics and Cytogenetics in Oncology and Haematology
ALDH2 (aldehyde dehydrogenase 2 family (mitochondrial))
| Identity |
| HGNC (Hugo) | ALDH2 |
| LocusID (NCBI) | 217 |
| Location | 12q24.12 |
| Location_base_pair | Starts at 112204691 and ends at 112247789 bp from pter ( according to hg19-Feb_2009) [Mapping] |
 | |
| Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics | |
| DNA/RNA |
| Description | ALDH2 gene spans 46031 base pairs (bp), consists of 13 exons and 12 introns and is located on the (+) DNA strand. |
| Transcription | The ALDH2 mRNA consists of 1989 base |
| Protein |
| Description | The ALDH2 protein is 517 amino acid long, has a molecular weight of 56 Kd, and forms a homotetramer. |
| Expression | ALDH2 is expressed in several human tissues with the highest levels found in liver. Screening of human cDNA libraries has revealed that ALDH2 transcripts are present in human liver, kidney, heart, stomach, colon, muscle, ovary, pancreas, lung, prostate, ear, eye, marrow, gall bladder, testis, thyroid, retina, adipose, adrenal gland, blood, brain, breast, placenta, uterus, B-cells, fetal brain, tonsil, foreskin, nervous normal and also in lung tumor, bladder tumor, nervous tumor. |
| Localisation | Mitochondrial matrix |
| Function | Conversion of aldehydes to acids via the reaction: ALDEHYDE + NAD + H2O = ACID + NADH |
| Homology | ALDH2 belongs to the aldehyde dehydrogenase gene superfamily . |
| Mutations |
| Germinal | One of the most studied polymorphism is a single base-pair mutation (1510 GÆA) in exon 12 of ALDH2 gene that causes an E487K substitution (ALDH2*2 allele), which results in catalytic inactivation of the enzyme. The ALDH2*2 allele is dominant negative and is responsible for acute alcohol intoxication due to accumulation of acetaldehyde. Facial flushing, nausea, dizziness and tachycardia characterize this alcohol intoxication. The ALDH2*2 allele is frequent in, but confined to Asian individuals, and it appears to be a determinant against alcoholism. On the other hand, alcohol-drinking individuals having the ALDH2*2 genotype are at substantially high risk of developing esophageal and upper aerodigestive tract cancers, head and neck cancers, colorectal cancer. |
| Implicated in |
| Entity | Uterine leiomyoma (uterine fibroids) --> HMGIC-ALDH2 |
| Disease | Benign mesenchymal tumors |
| Prognosis | Good |
| Hybrid/Mutated Gene | The HMGIC-ALDH2 aberrant transcript contains complete exons 1-3 of HMGI-C and the epitopic sequence that includes complete exon 13 of the ALDH2 gene and part of the 3' untrasnlated region of this gene. |
| Abnormal Protein | The ALDH2 contributes 10 amino acids to the fusion HMGIC-ALDH2 protein. |
| Oncogenesis | HMGIC-ALDH2: it has been suggested that the truncation of HMGIC, rather than fusion may be responsible for tumorigenesis. The fusion of the 3' untranslated region of the ALDH2 may contribute to the stabilization of HMGIC mRNA. |
| External links |
| Bibliography |
| Molecular abnormality and cDNA cloning of human aldehyde dehydrogenases. |
| Yoshida A, Ikawa M, Hsu LC, Tani K |
| Alcohol (Fayetteville, N.Y.). 1985 ; 2 (1) : 103-106. |
| PMID 4015823 |
| Description of a novel fusion transcript between HMGI-C, a gene encoding for a member of the high mobility group proteins, and the mitochondrial aldehyde dehydrogenase gene. |
| Kazmierczak B, Hennig Y, Wanschura S, Rogalla P, Bartnitzke S, Van de Ven W, Bullerdiek J |
| Cancer research. 1995 ; 55 (24) : 6038-6039. |
| PMID 8521389 |
| Investigation of genetic risk factors associated with alcoholism. |
| Harada S, Okubo T, Tsutsumi M, Takase S, Muramatsu T |
| Alcoholism, clinical and experimental research. 1996 ; 20 (9 Suppl) : 293A-296A. |
| PMID 8986225 |
| Description of a novel fusion transcript between HMGI-C, a gene encoding for a member of the high mobility group proteins, and the mitochondrial aldehyde dehydrogenase gene. |
| Kazmierczak B, Hennig Y, Wanschura S, Rogalla P, Bartnitzke S, Van de Ven W, Bullerdiek J |
| Cancer research. 1995 ; 55 (24) : 6038-6039. |
| PMID 8521389 |
| Effects of worldwide population subdivision on ALDH2 linkage disequilibrium. |
| Peterson RJ, Goldman D, Long JC |
| Genome research. 1999 ; 9 (9) : 844-852. |
| PMID 10508843 |
| Genotype difference of aldehyde dehydrogenase 2 gene in alcohol drinkers influences the incidence of Japanese colorectal cancer patients. |
| Murata M, Tagawa M, Watanabe S, Kimura H, Takeshita T, Morimoto K |
| Japanese journal of cancer research : Gann. 1999 ; 90 (7) : 711-719. |
| PMID 10470282 |
| Association of aldehyde dehydrogenase 2 gene polymorphism with multiple oesophageal dysplasia in head and neck cancer patients. |
| Muto M, Hitomi Y, Ohtsu A, Ebihara S, Yoshida S, Esumi H |
| Gut. 2000 ; 47 (2) : 256-261. |
| PMID 10896918 |
| Polymorphisms of human aldehyde dehydrogenases. Consequences for drug metabolism and disease. |
| Vasiliou V, Pappa A |
| Pharmacology. 2000 ; 61 (3) : 192-198. |
| PMID 10971205 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 09-2001 | Vasilis Vasiliou, Nickolas Sophos |
| Molecular Toxicology University of Colorado Health Sciences Center (UCHSC) Dept. of Pharmaceutical Sciences, C-238 4200 East Ninth Avenue Denver, CO 80262, USA |
| Citation |
| This paper should be referenced as such : |
| Vasiliou V, Sophos N . ALDH2 (aldehyde dehydrogenase 2 family (mitochondrial)). Atlas Genet Cytogenet Oncol Haematol. September 2001 . URL : http://AtlasGeneticsOncology.org/Genes/ALDH2ID250.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/37803/1/09-2001-ALDH2ID250.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 14 16:49:45 CEST 2013 |
For comments and suggestions or contributions, please contact us