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 |
|---|---|---|---|
| RS2152330714 | Health Risk | Likely pathogenic | — |
| RS2544348561 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544349490 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544357144 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544357172 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544357981 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544360290 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544360487 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544360565 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544371571 | Health Risk | Likely pathogenic | ALDH3A2-related disorder, ALDH3A2-related disorder |
| RS2544371605 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544372409 | Health Risk | Likely pathogenic | — |
| RS2544372582 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544375892 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544376116 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544376202 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544383909 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544389543 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544389996 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544393217 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544393267 | Health Risk | Likely pathogenic | — |
| RS2544393489 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544405202 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544405335 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544405809 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544405849 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544405868 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544405872 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS369385931 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS377139218 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547559 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS72547563 | Health Risk | Likely pathogenic | — |
| RS72547570 | Health Risk | Likely pathogenic | — |
| RS72547577 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS750697040 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS751079690 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS756687932 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS759874793 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS770427442 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS786204625 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS786205501 | Health Risk | Likely pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057516788 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057517352 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1057517403 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1336603960 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1339996692 | Health Risk | Pathogenic | — |
| RS1366970424 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1428029642 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1447023449 | Health Risk | Pathogenic | Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS1555533541 | Health Risk | Pathogenic | — |