ALDH3A2 Chromosome 17
Aldehyde dehydrogenase 3 family member A2
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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 |
|---|---|---|---|
| RS772967175 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS779956047 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS781059624 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS786204677 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS786204741 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Malignant tumor of esophagus, Sjögren-Larsson syndrome |
| RS786204759 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS866392702 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS886039304 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS886039305 | Health Risk | Pathogenic | — |
| RS909532068 | Health Risk | Pathogenic | — |
| RS1295218502 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1457784654 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1555533754 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2084819840 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2152328365 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2152331147 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544372602 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544372788 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547556 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS72547561 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547562 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547567 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547568 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547569 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547571 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS768290318 | Health Risk | Pathogenic/Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |