ALDH5A1 Chromosome 6

Aldehyde dehydrogenase 5 family member A1
182 variants 182 Health Risk

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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
RS1041467895 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS115784602 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder, Succinate-semialdehyde dehydrogenase deficiency
RS138912422 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS139719918 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Intellectual disability, Inborn genetic diseases
RS142482046 Health Risk Conflicting classifications of pathogenicity EEG abnormality, Succinate-semialdehyde dehydrogenase deficiency, EEG abnormality
RS144177566 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder, Succinate-semialdehyde dehydrogenase deficiency
RS145087265 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS145208127 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Cervical cancer, Succinate-semialdehyde dehydrogenase deficiency
RS147358733 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder, Succinate-semialdehyde dehydrogenase deficiency
RS147439442 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS148188703 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS148733464 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS149793005 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder, Inborn genetic diseases
RS151294087 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases, Succinate-semialdehyde dehydrogenase deficiency
RS1561879386 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1759948859 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS187404409 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS188108571 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS199767765 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS200398000 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Seizure, Succinate-semialdehyde dehydrogenase deficiency
RS2127382426 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS2127387935 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS368212282 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Intellectual disability, Succinate-semialdehyde dehydrogenase deficiency
RS369156704 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS372455508 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS373315916 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases, Succinate-semialdehyde dehydrogenase deficiency
RS373320785 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Intellectual disability, Succinate-semialdehyde dehydrogenase deficiency
RS374908367 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases, Succinate-semialdehyde dehydrogenase deficiency
RS4646837 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS535825137 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS572861590 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS578023593 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS62621664 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS750638943 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS757605946 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS759155182 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS760461822 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS767601869 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS768219929 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases, Succinate-semialdehyde dehydrogenase deficiency
RS771829991 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS773814880 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS774041089 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS775722631 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS775916984 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder, Succinate-semialdehyde dehydrogenase deficiency
RS775932045 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS776791710 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS776978579 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS779034609 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder, Succinate-semialdehyde dehydrogenase deficiency
RS779798309 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS886042931 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
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