ALDH5A1 Chromosome 6
Aldehyde dehydrogenase 5 family member A1
Upload your DNA to see your personal genotypes for variants in ALDH5A1.
What This Gene Does
This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aldehyde dehydrogenases
Locus Type
gene with protein product
Location
6p22.3
Ensembl
ENSG00000112294
Associated Conditions (10)
Succinate-semialdehyde dehydrogenase deficiency
ALDH5A1-related disorder
Intellectual disability
Inborn genetic diseases
EEG abnormality
Cervical cancer
Seizure
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
See cases
Key Variants
RS1041467895
Conflicting classifications of pathogenicity
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
Health Risk
RS115784602
Conflicting classifications of pathogenicity
Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder, Succinate-semialdehyde dehydrogenase deficiency
Health Risk
RS138912422
Conflicting classifications of pathogenicity
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
Health Risk
RS139719918
Conflicting classifications of pathogenicity
Succinate-semialdehyde dehydrogenase deficiency, Intellectual disability, Inborn genetic diseases
Health Risk
RS142482046
Conflicting classifications of pathogenicity
EEG abnormality, Succinate-semialdehyde dehydrogenase deficiency, EEG abnormality
Health Risk
RS144177566
Conflicting classifications of pathogenicity
Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder, Succinate-semialdehyde dehydrogenase deficiency
Health Risk
RS145087265
Conflicting classifications of pathogenicity
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
Health Risk
RS145208127
Conflicting classifications of pathogenicity
Succinate-semialdehyde dehydrogenase deficiency, Cervical cancer, Succinate-semialdehyde dehydrogenase deficiency
Health Risk
RS147358733
Conflicting classifications of pathogenicity
Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder, Succinate-semialdehyde dehydrogenase deficiency
Health Risk
RS147439442
Conflicting classifications of pathogenicity
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
Health Risk
RS148188703
Conflicting classifications of pathogenicity
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
Health Risk
RS148733464
Conflicting classifications of pathogenicity
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
Health Risk
All Variants (182)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2532855033 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS2532863262 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS2532877200 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS2532886288 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS370988709 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS375628463 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases, ALDH5A1-related disorder |
| RS72552281 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS72552284 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS746095345 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS747336313 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS748170674 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS755029414 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS758087862 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS760542761 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS765561257 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS765595608 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS769111673 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS774496720 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases, Succinate-semialdehyde dehydrogenase deficiency |
| RS875989801 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS906284769 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS985818920 | Health Risk | Pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS118203984 | Health Risk | Pathogenic/Likely pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS1380589911 | Health Risk | Pathogenic/Likely pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases, Succinate-semialdehyde dehydrogenase deficiency |
| RS1561879345 | Health Risk | Pathogenic/Likely pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS1759308366 | Health Risk | Pathogenic/Likely pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS2127387279 | Health Risk | Pathogenic/Likely pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS2532877266 | Health Risk | Pathogenic/Likely pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS751888532 | Health Risk | Pathogenic/Likely pathogenic | Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder, Succinate-semialdehyde dehydrogenase deficiency |
| RS762290992 | Health Risk | Pathogenic/Likely pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency, See cases |
| RS769411080 | Health Risk | Pathogenic/Likely pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS778127154 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases |
| RS953870735 | Health Risk | Pathogenic/Likely pathogenic | Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |