ADH7
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
Summary
This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs729147 | 4:100,333,267 | G/C | — | — |
| rs284787 | 4:100,333,556 | G/T | — | — |
| rs201695257 | 4:100,334,312 | G/T | — | uncertain significance |
| rs1721499234 | 4:100,336,758 | T/C | — | uncertain significance |
| rs187028264 | 4:100,337,763 | C/T | intron variant | — |
| rs367907552 | 4:100,340,170 | G/A | — | uncertain significance |
| rs1433147867 | 4:100,340,211 | G/A | — | uncertain significance |
| rs1268694762 | 4:100,340,215 | A/G | — | uncertain significance |
| rs1471455908 | 4:100,340,220 | G/T | — | uncertain significance |
| rs536459748 | 4:100,340,230 | C/T | — | uncertain significance |
| rs370741519 | 4:100,340,236 | C/T | — | uncertain significance |
| rs150551313 | 4:100,340,272 | C/A | — | uncertain significance |
| rs1154460 | 4:100,341,643 | G/A | intron variant | — |
| rs764699940 | 4:100,341,703 | T/C | — | likely benign |
| rs2530306379 | 4:100,341,744 | C/T | — | uncertain significance |
| rs2530306399 | 4:100,341,752 | A/G | — | uncertain significance |
| rs59534319 | 4:100,341,839 | T/C | — | benign |
| rs142925993 | 4:100,341,856 | A/T | — | uncertain significance |
| rs971074 | 4:100,341,861 | C/T | synonymous variant | — |
| rs376821544 | 4:100,341,929 | C/T | — | uncertain significance |
| rs1323092909 | 4:100,348,973 | C/T | — | uncertain significance |
| rs1317791438 | 4:100,348,989 | C/G | — | uncertain significance |
| rs757888348 | 4:100,349,015 | A/G | — | uncertain significance |
| rs781682064 | 4:100,349,018 | T/C | — | uncertain significance |
| rs750979953 | 4:100,349,020 | A/G | — | likely benign |
| rs1339207431 | 4:100,349,093 | C/T | — | uncertain significance |
| rs284797 | 4:100,349,135 | C/T | — | likely benign |
| rs2530323658 | 4:100,349,253 | A/T | — | uncertain significance |
| rs757367262 | 4:100,349,278 | G/A | — | uncertain significance |
| rs3737482 | 4:100,349,466 | T/C | intron variant | — |
| rs1573496 | 4:100,349,669 | C/G | missense variant | — |
| rs2530324650 | 4:100,349,687 | A/T | — | uncertain significance |
| rs2530324691 | 4:100,349,701 | C/G | — | uncertain significance |
| rs776088318 | 4:100,349,712 | C/T | — | uncertain significance |
| rs2110139738 | 4:100,349,739 | T/C | — | likely benign |
| rs72681953 | 4:100,349,793 | C/T | — | benign |
| rs774683127 | 4:100,350,682 | C/T | — | likely benign |
| rs773621774 | 4:100,350,690 | T/G | — | uncertain significance |
| rs148026590 | 4:100,350,696 | C/T | — | likely benign |
| rs146212255 | 4:100,350,710 | C/T | — | likely benign |
| rs1473115072 | 4:100,350,726 | T/G | — | uncertain significance |
| rs1449453610 | 4:100,350,751 | G/C | — | uncertain significance |
| rs1247173392 | 4:100,356,394 | G/A | — | likely benign |
| rs150497747 | 4:100,356,425 | A/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.