ALDH3A1
aldehyde dehydrogenase 3 family member A1
Summary
Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1013318026 | 17:19,642,344 | T/C | — | uncertain significance |
| rs1254877247 | 17:19,642,862 | C/T | — | uncertain significance |
| rs761187992 | 17:19,642,911 | G/A | — | likely benign |
| rs764176145 | 17:19,642,951 | G/A | — | uncertain significance |
| rs2544595734 | 17:19,642,957 | T/G | — | uncertain significance |
| rs201594817 | 17:19,643,664 | C/T | — | uncertain significance |
| rs144805447 | 17:19,643,665 | G/A | — | benign |
| rs769552132 | 17:19,643,673 | C/T | — | uncertain significance |
| rs142078447 | 17:19,643,699 | C/T | — | benign |
| rs2086469891 | 17:19,643,739 | T/C | — | uncertain significance |
| rs757324643 | 17:19,644,449 | G/C | — | uncertain significance |
| rs761232139 | 17:19,644,510 | C/T | — | likely pathogenic |
| rs140108064 | 17:19,644,516 | C/T | — | likely benign |
| rs765461706 | 17:19,645,365 | T/C | — | uncertain significance |
| rs545679214 | 17:19,645,383 | G/A | — | uncertain significance |
| rs57633837 | 17:19,645,412 | C/T | — | benign |
| rs771902173 | 17:19,645,446 | G/A | — | uncertain significance |
| rs368399148 | 17:19,645,485 | G/A | — | uncertain significance |
| rs747613567 | 17:19,645,522 | G/C | — | uncertain significance |
| rs146746671 | 17:19,645,922 | G/A | — | uncertain significance |
| rs536804477 | 17:19,646,557 | C/A | — | uncertain significance |
| rs748624316 | 17:19,646,577 | G/A | — | uncertain significance |
| rs61279095 | 17:19,646,681 | G/A | — | benign |
| rs116754663 | 17:19,648,302 | C/T | — | benign |
| rs2086574308 | 17:19,648,309 | A/C | — | uncertain significance |
| rs762182523 | 17:19,648,314 | C/G | — | likely benign |
| rs201504992 | 17:19,648,349 | C/T | — | likely benign |
| rs762196648 | 17:19,648,382 | G/A | — | uncertain significance |
| rs1351034901 | 17:19,648,438 | C/T | — | uncertain significance |
| rs4646789 | 17:19,648,629 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.