ALDH2
aldehyde dehydrogenase 2 family member
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 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]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886205 | 12:112,204,427 | A/C | — | — |
| rs2542330746 | 12:112,204,876 | G/T | — | uncertain significance |
| rs2238151 | 12:112,211,833 | T/A | — | — |
| rs2238152 | 12:112,214,459 | G/T | intron variant | — |
| rs141574314 | 12:112,219,728 | A/G | — | likely benign |
| rs2542344027 | 12:112,219,804 | G/C | — | uncertain significance |
| rs904582951 | 12:112,219,824 | A/G | — | uncertain significance |
| rs201582342 | 12:112,221,016 | C/A | — | benign |
| rs2542345278 | 12:112,221,046 | G/A | — | uncertain significance |
| rs13306164 | 12:112,221,055 | C/T | — | benign |
| rs755761896 | 12:112,221,079 | G/A | — | uncertain significance |
| rs758915089 | 12:112,221,083 | G/A | — | uncertain significance |
| rs1439916433 | 12:112,221,088 | C/T | — | uncertain significance |
| rs2068287072 | 12:112,221,092 | C/T | — | uncertain significance |
| rs1181066073 | 12:112,227,637 | G/A | — | uncertain significance |
| rs201725825 | 12:112,227,723 | C/T | — | likely benign |
| rs199847950 | 12:112,227,739 | G/T | — | uncertain significance |
| rs1239594775 | 12:112,228,248 | C/T | — | uncertain significance |
| rs58280059 | 12:112,228,249 | G/A | — | benign |
| rs441 | 12:112,228,849 | T/C | intron variant | — |
| rs543030829 | 12:112,229,159 | C/T | — | likely benign |
| rs201835306 | 12:112,229,871 | C/T | — | uncertain significance |
| rs150631941 | 12:112,229,919 | T/C | — | benign |
| rs142271678 | 12:112,229,964 | G/A | — | uncertain significance |
| rs4646776 | 12:112,230,019 | G/C | regulatory region variant | — |
| rs201108880 | 12:112,230,413 | G/A | — | benign |
| rs756978401 | 12:112,230,521 | G/A | — | uncertain significance |
| rs775082307 | 12:112,230,528 | G/C | — | uncertain significance |
| rs759981145 | 12:112,230,547 | C/T | — | likely benign |
| rs968529 | 12:112,234,368 | T/C | intron variant | — |
| rs183108437 | 12:112,237,700 | C/T | — | likely benign |
| rs141556759 | 12:112,237,784 | G/A | — | benign |
| rs4767035 | 12:112,239,141 | A/C | intron variant | — |
| rs190914158 | 12:112,241,720 | G/A | — | benign |
| rs1489865347 | 12:112,241,727 | G/A | — | uncertain significance |
| rs671 | 12:112,241,766 | G/A | missense variant | drug response |
| rs16941667 | 12:112,244,413 | C/T | intron variant | — |
| rs16941669 | 12:112,245,637 | T/G | upstream gene variant | — |
| rs530203431 | 12:112,248,761 | A/G | — | — |
| rs10849971 | 12:112,251,197 | A/T | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.