ADH1B
alcohol dehydrogenase 1B (class I), beta polypeptide
Summary
The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1042026 | 4:100,228,466 | T/C | 3 prime UTR variant | — |
| rs17033 | 4:100,228,945 | T/C | 3 prime UTR variant | — |
| rs2530125038 | 4:100,229,007 | A/C | — | uncertain significance |
| rs75967634 | 4:100,229,016 | C/T | missense variant | — |
| rs2066702 | 4:100,229,017 | G/A | missense variant | protective |
| rs28914782 | 4:100,231,917 | T/C | — | benign |
| rs2530130828 | 4:100,232,007 | T/C | — | uncertain significance |
| rs374931248 | 4:100,232,015 | A/G | — | uncertain significance |
| rs370031363 | 4:100,232,053 | C/A | — | uncertain significance |
| rs17028834 | 4:100,232,600 | T/C | intron variant | — |
| rs142543822 | 4:100,232,704 | C/T | — | uncertain significance |
| rs201850302 | 4:100,232,764 | A/G | — | uncertain significance |
| rs140683864 | 4:100,232,771 | C/A | — | uncertain significance |
| rs766203011 | 4:100,232,799 | T/G | — | uncertain significance |
| rs201571406 | 4:100,235,032 | C/T | — | uncertain significance |
| rs148100209 | 4:100,235,093 | G/A | — | uncertain significance |
| rs1366999775 | 4:100,235,128 | G/T | — | uncertain significance |
| rs2018417 | 4:100,235,140 | A/C | — | benign |
| rs751751640 | 4:100,235,141 | G/A | — | uncertain significance |
| rs755890908 | 4:100,235,167 | T/G | — | uncertain significance |
| rs28626993 | 4:100,235,194 | G/A | — | benign |
| rs778587185 | 4:100,235,232 | G/A | — | uncertain significance |
| rs201104860 | 4:100,237,064 | G/T | — | likely benign |
| rs142861273 | 4:100,237,088 | C/T | — | likely benign |
| rs79367470 | 4:100,237,105 | T/C | — | uncertain significance |
| rs41275697 | 4:100,237,127 | C/T | — | benign |
| rs755600179 | 4:100,237,128 | G/A | — | uncertain significance |
| rs2530141127 | 4:100,237,132 | C/A | — | uncertain significance |
| rs1427361429 | 4:100,237,254 | G/T | — | uncertain significance |
| rs757632781 | 4:100,237,374 | A/T | — | uncertain significance |
| rs560773951 | 4:100,237,393 | C/A | — | uncertain significance |
| rs148622183 | 4:100,237,399 | G/A | — | uncertain significance |
| rs369184871 | 4:100,237,400 | G/C | — | uncertain significance |
| rs767886585 | 4:100,237,444 | G/A | — | uncertain significance |
| rs1230758917 | 4:100,237,445 | G/A | — | uncertain significance |
| rs2075633 | 4:100,238,998 | T/C | intron variant | — |
| rs41275699 | 4:100,239,268 | A/G | — | benign |
| rs6413413 | 4:100,239,284 | T/A | missense variant | — |
| rs1229984 | 4:100,239,319 | T/A | missense variant | protective |
| rs28913916 | 4:100,239,344 | A/G | — | benign |
| rs775325816 | 4:100,239,971 | G/T | — | uncertain significance |
| rs113075608 | 4:100,240,016 | A/G | — | benign |
| rs1159918 | 4:100,243,009 | A/C | upstream gene variant | — |
| rs1229982 | 4:100,243,932 | T/A | — | — |
| rs3811801 | 4:100,244,319 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.