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 |
|---|---|---|---|
| RS1567607328 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1597564608 | Health Risk | Pathogenic | — |
| RS2084774156 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2084814748 | Health Risk | Pathogenic | — |
| RS2084960336 | Health Risk | Pathogenic | — |
| RS2084962182 | Health Risk | Pathogenic | — |
| RS2084996201 | Health Risk | Pathogenic | — |
| RS2152325575 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2152326471 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2152326510 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2152328735 | Health Risk | Pathogenic | — |
| RS2152329943 | Health Risk | Pathogenic | — |
| RS2152331137 | Health Risk | Pathogenic | — |
| RS2152333224 | Health Risk | Pathogenic | — |
| RS2544349280 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544349369 | Health Risk | Pathogenic | — |
| RS2544357385 | Health Risk | Pathogenic | — |
| RS2544357822 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544360144 | Health Risk | Pathogenic | — |
| RS2544360182 | Health Risk | Pathogenic | — |
| RS2544371353 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544372211 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544372398 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544375856 | Health Risk | Pathogenic | — |
| RS2544383508 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544389390 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544390077 | Health Risk | Pathogenic | — |
| RS2544393343 | Health Risk | Pathogenic | — |
| RS2544393388 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544393411 | Health Risk | Pathogenic | — |
| RS2544405181 | Health Risk | Pathogenic | — |
| RS2544405582 | Health Risk | Pathogenic | — |
| RS2544405828 | Health Risk | Pathogenic | — |
| RS2544405929 | Health Risk | Pathogenic | — |
| RS387906254 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS387906255 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS387906256 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS387906257 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS61737991 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547564 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547566 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547573 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547575 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS730880264 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Cerebral palsy, Inborn genetic diseases |
| RS753291303 | Health Risk | Pathogenic | — |
| RS753999443 | Health Risk | Pathogenic | — |
| RS757359379 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS767751416 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS769354565 | Health Risk | Pathogenic | — |
| RS769821628 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Familial cancer of breast, Sjögren-Larsson syndrome |