ALDH3A2 Chromosome 17
Aldehyde dehydrogenase 3 family member A2
Upload your DNA to see your personal genotypes for variants in ALDH3A2.
What This Gene Does
Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aldehyde dehydrogenases
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000072210
Associated Conditions (7)
Sjögren-Larsson syndrome
Inborn genetic diseases
ALDH3A2-related disorder
Familial cancer of breast
Gastric cancer
Cerebral palsy
Malignant tumor of esophagus
Key Variants
RS1010078101
Conflicting classifications of pathogenicity
Health Risk
RS1054840414
Conflicting classifications of pathogenicity
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
Health Risk
RS1320588121
Conflicting classifications of pathogenicity
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
Health Risk
RS140649688
Conflicting classifications of pathogenicity
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
Health Risk
RS141112437
Conflicting classifications of pathogenicity
Inborn genetic diseases, Sjögren-Larsson syndrome, Inborn genetic diseases
Health Risk
RS143717984
Conflicting classifications of pathogenicity
Sjögren-Larsson syndrome, Inborn genetic diseases, Sjögren-Larsson syndrome
Health Risk
RS144496536
Conflicting classifications of pathogenicity
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
Health Risk
RS147190807
Conflicting classifications of pathogenicity
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
Health Risk
RS147200808
Conflicting classifications of pathogenicity
Sjögren-Larsson syndrome, Inborn genetic diseases, Sjögren-Larsson syndrome
Health Risk
RS148944691
Conflicting classifications of pathogenicity
Sjögren-Larsson syndrome, ALDH3A2-related disorder, Familial cancer of breast
Health Risk
RS150927045
Conflicting classifications of pathogenicity
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
Health Risk
RS181889379
Conflicting classifications of pathogenicity
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
Health Risk
All Variants (176)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1010078101 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1054840414 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1320588121 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS140649688 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS141112437 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Sjögren-Larsson syndrome, Inborn genetic diseases |
| RS143717984 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Inborn genetic diseases, Sjögren-Larsson syndrome |
| RS144496536 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS147190807 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS147200808 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Inborn genetic diseases, Sjögren-Larsson syndrome |
| RS148944691 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, ALDH3A2-related disorder, Familial cancer of breast |
| RS150927045 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS181889379 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS192458322 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS199548781 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS370654268 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373251784 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS67939114 | Health Risk | Conflicting classifications of pathogenicity | ALDH3A2-related disorder, Sjögren-Larsson syndrome, ALDH3A2-related disorder |
| RS72547554 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome, ALDH3A2-related disorder |
| RS746519259 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS749679693 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS752169967 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756275242 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770078722 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773093556 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS886052688 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS886052689 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS886052690 | Health Risk | Conflicting classifications of pathogenicity | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1036733598 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057516386 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057516481 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057516742 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057516851 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057516863 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057517004 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057517190 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057517278 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057517299 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS112346474 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1265969343 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1400349287 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1456560062 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1555534430 | Health Risk | Likely pathogenic | — |
| RS1555534434 | Health Risk | Likely pathogenic | — |
| RS1555534472 | Health Risk | Likely pathogenic | — |
| RS1597556369 | Health Risk | Likely pathogenic | — |
| RS201985073 | Health Risk | Likely pathogenic | — |
| RS2152326727 | Health Risk | Likely pathogenic | — |
| RS2152328249 | Health Risk | Likely pathogenic | — |
| RS2152328724 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2152328756 | Health Risk | Likely pathogenic | — |