ALDH1A3 Chromosome 15
Aldehyde dehydrogenase 1 family member A3
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What This Gene Does
This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
Aldehyde dehydrogenases
Locus Type
gene with protein product
Location
15q26.3
Ensembl
ENSG00000184254
Associated Conditions (5)
Isolated microphthalmia 8
Inborn genetic diseases
Isolated anophthalmia-microphthalmia syndrome
Microphthalmia
Autism
Key Variants
RS145630728
Conflicting classifications of pathogenicity
Isolated microphthalmia 8, Inborn genetic diseases, Isolated microphthalmia 8
Health Risk
RS1191459372
Likely pathogenic
Health Risk
RS1199864354
Likely pathogenic
Isolated microphthalmia 8, Isolated microphthalmia 8
Health Risk
RS1567174297
Likely pathogenic
Isolated anophthalmia-microphthalmia syndrome, Isolated anophthalmia-microphthalmia syndrome
Health Risk
RS2505570620
Likely pathogenic
Isolated microphthalmia 8, Isolated microphthalmia 8
Health Risk
RS2505576497
Likely pathogenic
Isolated microphthalmia 8, Isolated microphthalmia 8
Health Risk
RS547918064
Likely pathogenic
Isolated microphthalmia 8, Isolated microphthalmia 8, Isolated microphthalmia 8
Health Risk
RS754619607
Likely pathogenic
Isolated microphthalmia 8, Isolated microphthalmia 8
Health Risk
RS797046134
Likely pathogenic
Autism, Autism
Health Risk
RS1164081840
Pathogenic
Isolated anophthalmia-microphthalmia syndrome, Isolated anophthalmia-microphthalmia syndrome
Health Risk
RS1422193527
Pathogenic
Isolated microphthalmia 8, Isolated microphthalmia 8
Health Risk
RS1470193684
Pathogenic
Isolated anophthalmia-microphthalmia syndrome, Isolated anophthalmia-microphthalmia syndrome
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145630728 | Health Risk | Conflicting classifications of pathogenicity | Isolated microphthalmia 8, Inborn genetic diseases, Isolated microphthalmia 8 |
| RS1191459372 | Health Risk | Likely pathogenic | — |
| RS1199864354 | Health Risk | Likely pathogenic | Isolated microphthalmia 8, Isolated microphthalmia 8 |
| RS1567174297 | Health Risk | Likely pathogenic | Isolated anophthalmia-microphthalmia syndrome, Isolated anophthalmia-microphthalmia syndrome |
| RS2505570620 | Health Risk | Likely pathogenic | Isolated microphthalmia 8, Isolated microphthalmia 8 |
| RS2505576497 | Health Risk | Likely pathogenic | Isolated microphthalmia 8, Isolated microphthalmia 8 |
| RS547918064 | Health Risk | Likely pathogenic | Isolated microphthalmia 8, Isolated microphthalmia 8, Isolated microphthalmia 8 |
| RS754619607 | Health Risk | Likely pathogenic | Isolated microphthalmia 8, Isolated microphthalmia 8 |
| RS797046134 | Health Risk | Likely pathogenic | Autism, Autism |
| RS1164081840 | Health Risk | Pathogenic | Isolated anophthalmia-microphthalmia syndrome, Isolated anophthalmia-microphthalmia syndrome |
| RS1422193527 | Health Risk | Pathogenic | Isolated microphthalmia 8, Isolated microphthalmia 8 |
| RS1470193684 | Health Risk | Pathogenic | Isolated anophthalmia-microphthalmia syndrome, Isolated anophthalmia-microphthalmia syndrome |
| RS200440536 | Health Risk | Pathogenic | — |
| RS2141554930 | Health Risk | Pathogenic | Isolated microphthalmia 8, Isolated microphthalmia 8 |
| RS2505549879 | Health Risk | Pathogenic | Isolated microphthalmia 8, Isolated microphthalmia 8 |
| RS2505570932 | Health Risk | Pathogenic | Isolated microphthalmia 8, Isolated microphthalmia 8 |
| RS386834230 | Health Risk | Pathogenic | — |
| RS397514652 | Health Risk | Pathogenic | Isolated microphthalmia 8, Isolated microphthalmia 8 |
| RS397514653 | Health Risk | Pathogenic | Isolated microphthalmia 8, Isolated microphthalmia 8 |
| RS78931658 | Health Risk | Pathogenic | Isolated microphthalmia 8, Isolated microphthalmia 8 |