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Aliases for ALDH5A1 Gene

Aliases for ALDH5A1 Gene

  • Aldehyde Dehydrogenase 5 Family, Member A1 2 3
  • SSADH 3 4 6
  • NAD(+)-Dependent Succinic Semialdehyde Dehydrogenase 3 4
  • EC 4 63
  • Succinate-Semialdehyde Dehydrogenase, Mitochondrial 3
  • Mitochondrial Succinate Semialdehyde Dehydrogenase 3
  • Aldehyde Dehydrogenase 5 Family Member A1 3
  • Aldehyde Dehydrogenase Family 5 Member A1 4
  • Succinate-Semialdehyde Dehydrogenase 2
  • EC 1.2.1 63
  • SSDH 3

External Ids for ALDH5A1 Gene

Previous GeneCards Identifiers for ALDH5A1 Gene

  • GC06P024552
  • GC06P024603

Summaries for ALDH5A1 Gene

Entrez Gene Summary for ALDH5A1 Gene

  • 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]

GeneCards Summary for ALDH5A1 Gene

ALDH5A1 (Aldehyde Dehydrogenase 5 Family, Member A1) is a Protein Coding gene. Diseases associated with ALDH5A1 include succinic semialdehyde dehydrogenase deficiency and juvenile absence epilepsy. Among its related pathways are Metabolism and Transmission across Chemical Synapses. GO annotations related to this gene include protein homodimerization activity and succinate-semialdehyde dehydrogenase [NAD(P)+] activity.

UniProtKB/Swiss-Prot for ALDH5A1 Gene

  • Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).

Gene Wiki entry for ALDH5A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH5A1 Gene

Genomics for ALDH5A1 Gene

Regulatory Elements for ALDH5A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ALDH5A1 Gene

24,494,852 bp from pter
24,537,207 bp from pter
42,356 bases
Plus strand

Genomic View for ALDH5A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH5A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH5A1 Gene

Proteins for ALDH5A1 Gene

  • Protein details for ALDH5A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Succinate-semialdehyde dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2RD26
    • G5E949
    • Q546H9
    • Q8N3W6

    Protein attributes for ALDH5A1 Gene

    535 amino acids
    Molecular mass:
    57215 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for ALDH5A1 Gene

    Alternative splice isoforms for ALDH5A1 Gene


neXtProt entry for ALDH5A1 Gene

Proteomics data for ALDH5A1 Gene at MOPED

Post-translational modifications for ALDH5A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH5A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for ALDH5A1 Gene

Gene Families for ALDH5A1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the aldehyde dehydrogenase family.
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH5A1: view

Function for ALDH5A1 Gene

Molecular function for ALDH5A1 Gene

GENATLAS Biochemistry:
NAD+ dependent succinic semialdehyde dehydrogenase,involved in the biosynthesis of gammahydroxybutyrate and in the detoxification of xenobiotic carbonyl compounds
UniProtKB/Swiss-Prot CatalyticActivity:
Succinate semialdehyde + NAD(+) + H(2)O = succinate + NADH
UniProtKB/Swiss-Prot EnzymeRegulation:
Redox-regulated. Inhibited under oxydizing conditions. Inhibited by hydrogen peroxide H(2)O(2).
UniProtKB/Swiss-Prot Function:
Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).

Enzyme Numbers (IUBMB) for ALDH5A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004029 aldehyde dehydrogenase (NAD) activity IBA --
GO:0004777 succinate-semialdehyde dehydrogenase (NAD+) activity ISS 7814412
GO:0009013 succinate-semialdehyde dehydrogenase [NAD(P)+] activity IBA --
GO:0016491 oxidoreductase activity --
GO:0042803 protein homodimerization activity IC 16199352
genes like me logo Genes that share ontologies with ALDH5A1: view
genes like me logo Genes that share phenotypes with ALDH5A1: view

Animal Models for ALDH5A1 Gene

MGI Knock Outs for ALDH5A1:

Animal Model Products

CRISPR Products

miRNA for ALDH5A1 Gene

No data available for Transcription Factor Targets and HOMER Transcription for ALDH5A1 Gene

Localization for ALDH5A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH5A1 Gene


Subcellular locations from

Jensen Localization Image for ALDH5A1 Gene COMPARTMENTS Subcellular localization image for ALDH5A1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ALDH5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ALDH5A1: view

Pathways for ALDH5A1 Gene

genes like me logo Genes that share pathways with ALDH5A1: view

PCR Array Products

UniProtKB/Swiss-Prot P51649-SSDH_HUMAN

  • Pathway: Amino-acid degradation; 4-aminobutanoate degradation

Interacting Proteins for ALDH5A1 Gene

Gene Ontology (GO) - Biological Process for ALDH5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006006 glucose metabolic process ISS --
GO:0006083 acetate metabolic process ISS --
GO:0006105 succinate metabolic process ISS --
GO:0006536 glutamate metabolic process ISS --
GO:0006541 glutamine metabolic process ISS --
genes like me logo Genes that share ontologies with ALDH5A1: view

Drugs for ALDH5A1 Gene

(4) Drugbank Compounds for ALDH5A1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
Valproic Acid
  • 2-n-propyl-n-valeric acid
99-66-1 3121 Target inhibitor approved, investigational
Succinic acid
  • 1,2-Ethanedicarboxylic acid
110-15-6 1110 Target inhibitor approved, nutraceutical
  • {3-[(aminocarbonyl)amino]-2-methoxypropyl}chloromercury
62-37-3 25210 Target inhibitor approved, withdrawn
  • 1,4-dihydronicotinamide adenine dinucleotide
606-68-8 439153 Target nutraceutical

(7) HMDB Compounds for ALDH5A1 Gene

Compound Synonyms Cas Number PubMed IDs
Hydrogen Ion
  • Hydrogen cation
  • 3-Carbamoyl-1-beta-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate inner salt
  • 1,4-Dihydronicotinamide adenine dinucleotide
Succinic acid
  • 1,2-Ethanedicarboxylate

(14) Novoseek inferred chemical compound relationships for ALDH5A1 Gene

Compound -log(P) Hits PubMed IDs
succinic semialdehyde 99 76
gamma-hydroxybutyrate 90.7 31
gaba 80.1 55
vigabatrin 73.6 4
succinate 63.9 10

(1) PharmGKB related drug/compound annotations for ALDH5A1 Gene

Drug/compound Annotation
methadone Clinical Annotation
genes like me logo Genes that share compounds with ALDH5A1: view

Transcripts for ALDH5A1 Gene

Unigene Clusters for ALDH5A1 Gene

Aldehyde dehydrogenase 5 family, member A1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH5A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: -
SP2: - -

Relevant External Links for ALDH5A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALDH5A1 Gene

mRNA expression in normal human tissues for ALDH5A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for ALDH5A1 Gene

This gene is overexpressed in Liver (12.3) and Frontal cortex (7.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALDH5A1 Gene

SOURCE GeneReport for Unigene cluster for ALDH5A1 Gene Hs.371723

mRNA Expression by UniProt/SwissProt for ALDH5A1 Gene

Tissue specificity: Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta
genes like me logo Genes that share expressions with ALDH5A1: view

Expression partners for ALDH5A1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ALDH5A1 Gene

Orthologs for ALDH5A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH5A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ALDH5A1 35
  • 86.12 (n)
  • 85.93 (a)
ALDH5A1 36
  • 85 (a)
(Canis familiaris)
Mammalia ALDH5A1 35
  • 87.87 (n)
  • 91.34 (a)
ALDH5A1 36
  • 83 (a)
(Mus musculus)
Mammalia Aldh5a1 35
  • 81.96 (n)
  • 86.23 (a)
Aldh5a1 16
Aldh5a1 36
  • 85 (a)
(Pan troglodytes)
Mammalia ALDH5A1 35
  • 99.56 (n)
  • 99.62 (a)
ALDH5A1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Aldh5a1 35
  • 81.96 (n)
  • 86.04 (a)
(Monodelphis domestica)
Mammalia ALDH5A1 36
  • 79 (a)
(Gallus gallus)
Aves ALDH5A1 35
  • 72.58 (n)
  • 78.43 (a)
ALDH5A1 36
  • 70 (a)
(Anolis carolinensis)
Reptilia ALDH5A1 36
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh5a1 35
  • 70.8 (n)
  • 77.89 (a)
(Danio rerio)
Actinopterygii aldh5a1 35
  • 67.68 (n)
  • 70.74 (a)
aldh5a1 36
  • 72 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4685 37
  • 52 (a)
Ssadh 35
  • 54.8 (n)
  • 52.8 (a)
Ssadh 36
  • 50 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003165 35
  • 56.6 (n)
  • 54.17 (a)
(Caenorhabditis elegans)
Secernentea alh-7 35
  • 53.77 (n)
  • 50 (a)
alh-7 36
  • 48 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER007W 35
  • 52.73 (n)
  • 47.48 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17491g 35
  • 54.14 (n)
  • 50.31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UGA2 35
  • 53.57 (n)
  • 48.74 (a)
UGA2 36
  • 46 (a)
UGA2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH5F1 35
  • 58.63 (n)
  • 59.54 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3967 35
(Hordeum vulgare)
Liliopsida Hv.5500 35
(Oryza sativa)
Liliopsida Os.9838 35
(Triticum aestivum)
Liliopsida Ta.5774 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6288 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00936 35
  • 57.53 (n)
  • 57.11 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1002.12c 35
  • 56.52 (n)
  • 52.13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
-- 36
  • 56 (a)
Species with no ortholog for ALDH5A1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ALDH5A1 Gene

Gene Tree for ALDH5A1 (if available)
Gene Tree for ALDH5A1 (if available)

Paralogs for ALDH5A1 Gene

(11) SIMAP similar genes for ALDH5A1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ALDH5A1: view

No data available for Paralogs for ALDH5A1 Gene

Variants for ALDH5A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH5A1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs807512 -- 24,516,742(+) acaac(A/C)tggtg intron-variant
rs807513 -- 24,518,093(+) GGGCT(A/G)GGTCA intron-variant
rs807514 -- 24,518,588(+) AAAGT(G/T)TAAAT intron-variant
rs807515 -- 24,519,658(+) TAAAG(G/T)GTTAT intron-variant
rs807516 -- 24,523,489(+) GTCAT(A/G)AGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH5A1 Gene

Variant ID Type Subtype PubMed ID
nsv519552 CNV Gain 19592680
nsv883480 CNV Loss 21882294
esv34020 CNV Loss 18971310
esv2648573 CNV Deletion 19546169

Relevant External Links for ALDH5A1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH5A1 Gene

Disorders for ALDH5A1 Gene

(1) OMIM Diseases for ALDH5A1 Gene (610045)


  • Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]: A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances. {ECO:0000269 PubMed:11243727, ECO:0000269 PubMed:11901270, ECO:0000269 PubMed:14635103}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ALDH5A1 Gene

(9) Novoseek inferred disease relationships for ALDH5A1 Gene

Disease -log(P) Hits PubMed IDs
language delay 70.2 2
absence seizures 57.7 3
developmental delay 57.1 2
epilepsy, idiopathic generalized 49.6 3
epilepsy 44.7 8

Genatlas disease for ALDH5A1 Gene

4-hydroxybutyric aciduria characterized by psychomotor retardation,ataxia,hypotonia

Relevant External Links for ALDH5A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ALDH5A1: view

Publications for ALDH5A1 Gene

  1. Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression. (PMID: 7814412) Chambliss K.L. … Gibson K.M. (J. Biol. Chem. 1995) 2 3 4 23
  2. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). (PMID: 9683595) Chambliss K.L. … Gibson K.M. (Am. J. Hum. Genet. 1998) 3 4 23
  3. Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. (PMID: 11243727) Hogema B.M. … Gibson K.M. (Mol. Genet. Metab. 2001) 3 4 23
  4. Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T>A of the ALDH5A1 gene. (PMID: 11901270) Aoshima T. … Niwa T. (Hum. Hered. 2002) 3 4 23
  5. Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. (PMID: 12208142) Blasi P. … Malaspina P. (Mol. Genet. Metab. 2002) 3 4 23

Products for ALDH5A1 Gene

Sources for ALDH5A1 Gene

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