Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | ALDH2 |
| Gene Name: | ALDH2 |
| Protein Full Name: | Aldehyde dehydrogenase, mitochondrial |
| Alias: | Acetaldehyde dehydrogenase 2; Aldehyde dehydrogenase 2 family (mitochondrial); Aldehyde dehydrogenase, mitochondrial; ALDH class 2; ALDH-E2; ALDHI; ALDM; EC 1.2.1.3 |
| Mass (Da): | 56381 |
| Number AA: | 517 |
| UniProt ID: | P05091 |
| Locus ID: | 217 |
| COSMIC ID: | ALDH2 |
| Gene location on chromosome: | 12q24.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 19717 |
| Percent of cancer specimens with mutations: | 0.47 |
| Commonly recorded point mutations: | L189P (6) |
| Deregulated in translocations: | Uterine leiomyoma; fusion partner include HMGA2 |
| Normal role description: | ALDH2 is an aldehyde dehydrogenase expressed at high levels in the liver. This isoform is localized to the mitochondrial matrix. This enzyme functions in alcohol metabolism and converts acetalaldehyde to acetic acid. Individuals who consume alcohol with a point mutation of E487K have an increased risk of head and neck and colorectal cancers. Translocation of ALDH2 with HMGA2 has been implicated in development of uterine tumours. |