ALDH1A1
aldehyde dehydrogenase 1 family member A1
Summary
The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371621448 | 9:75,516,186 | C/A | — | uncertain significance |
| rs3764435 | 9:75,516,876 | A/C | intron variant | — |
| rs168351 | 9:75,517,311 | A/G | intron variant | — |
| rs348471 | 9:75,519,975 | G/A | intron variant | — |
| rs1182140682 | 9:75,524,551 | G/C | — | uncertain significance |
| rs756849804 | 9:75,524,567 | T/C | — | uncertain significance |
| rs63319 | 9:75,524,784 | G/A | — | — |
| rs8187974 | 9:75,526,866 | C/A | splice region variant | benign |
| rs767589226 | 9:75,526,908 | T/C | — | uncertain significance |
| rs2490101428 | 9:75,526,950 | C/A | — | uncertain significance |
| rs1399235957 | 9:75,526,953 | G/A | — | uncertain significance |
| rs1317026971 | 9:75,526,990 | T/C | — | uncertain significance |
| rs781731756 | 9:75,531,909 | C/T | — | uncertain significance |
| rs2490112042 | 9:75,531,928 | T/C | — | uncertain significance |
| rs2490112047 | 9:75,531,933 | T/A | — | uncertain significance |
| rs610529 | 9:75,533,324 | A/G | intron variant | — |
| rs1330340346 | 9:75,538,964 | C/T | — | uncertain significance |
| rs1564631703 | 9:75,539,015 | G/A | — | uncertain significance |
| rs8187930 | 9:75,540,393 | G/T | — | benign |
| rs770966677 | 9:75,540,483 | G/T | — | uncertain significance |
| rs372664748 | 9:75,540,503 | A/G | — | uncertain significance |
| rs746369821 | 9:75,542,077 | T/C | — | likely benign |
| rs139374917 | 9:75,542,080 | A/T | — | benign |
| rs775903305 | 9:75,542,087 | T/A | — | uncertain significance |
| rs149236405 | 9:75,543,822 | C/T | — | uncertain significance |
| rs371735738 | 9:75,543,859 | G/A | — | uncertain significance |
| rs201385375 | 9:75,543,928 | A/T | — | uncertain significance |
| rs2490139219 | 9:75,545,922 | T/A | — | uncertain significance |
| rs112596047 | 9:75,548,526 | A/T | — | — |
| rs7852860 | 9:75,550,741 | C/A | intron variant | — |
| rs7027604 | 9:75,554,952 | A/C | intron variant | — |
| rs778739142 | 9:75,555,082 | C/G | — | uncertain significance |
| rs8187876 | 9:75,564,954 | C/G | — | — |
| rs144704960 | 9:75,567,900 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.