ADH5
alcohol dehydrogenase 5 (class III), chi polypeptide
Summary
This gene encodes 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 encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7662987 | 4:99,991,642 | T/C | downstream gene variant | — |
| rs28730650 | 4:99,992,651 | C/A | upstream gene variant | — |
| rs6827292 | 4:99,992,994 | T/C | upstream gene variant | — |
| rs13832 | 4:99,993,075 | C/T | — | — |
| rs29001570 | 4:99,994,405 | T/C | intron variant | — |
| rs2529781411 | 4:99,996,076 | G/T | — | uncertain significance |
| rs2529781465 | 4:99,996,110 | A/G | — | uncertain significance |
| rs750535620 | 4:99,996,146 | C/T | — | uncertain significance |
| rs754853545 | 4:99,996,194 | C/G | — | pathogenic |
| rs368604169 | 4:99,996,208 | C/A | — | likely benign |
| rs1154416 | 4:99,996,373 | G/A | — | — |
| rs2529783692 | 4:99,997,515 | C/G | — | uncertain significance |
| rs764039544 | 4:99,997,549 | C/T | — | uncertain significance |
| rs542524438 | 4:99,997,615 | C/A | — | uncertain significance |
| rs1727938145 | 4:99,997,854 | C/T | — | pathogenic |
| rs757769476 | 4:99,997,863 | T/C | — | uncertain significance |
| rs376467311 | 4:99,997,955 | A/G | — | uncertain significance |
| rs199810734 | 4:99,997,998 | T/C | — | uncertain significance |
| rs748214718 | 4:99,998,027 | G/T | — | uncertain significance |
| rs28730619 | 4:99,999,225 | T/C | intron variant | — |
| rs1154414 | 4:100,000,136 | T/C | intron variant | — |
| rs536474366 | 4:100,003,204 | A/C | — | uncertain significance |
| rs201786928 | 4:100,006,273 | C/T | — | uncertain significance |
| rs1437389652 | 4:100,006,316 | T/C | — | uncertain significance |
| rs553316664 | 4:100,008,423 | C/T | — | — |
| rs1154406 | 4:100,008,494 | T/G | — | — |
| rs1154404 | 4:100,009,004 | A/C | — | — |
| rs748458712 | 4:100,009,843 | G/C | — | uncertain significance |
| rs13132688 | 4:100,011,171 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.