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Aliases for ALDH5A1 Gene

Aliases for ALDH5A1 Gene

  • Aldehyde Dehydrogenase 5 Family Member A1 2 3 5
  • NAD(+)-Dependent Succinic Semialdehyde Dehydrogenase 3 4
  • EC 4 61
  • SSADH 3 4
  • Succinate-Semialdehyde Dehydrogenase, Mitochondrial 3
  • Mitochondrial Succinate Semialdehyde Dehydrogenase 3
  • Aldehyde Dehydrogenase 5 Family, Member A1 2
  • Aldehyde Dehydrogenase Family 5 Member A1 4
  • Succinate-Semialdehyde Dehydrogenase 2
  • EC 1.2.1 61
  • 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 Gamma-Amino Butyric Acid Metabolism Disorder. Among its related pathways are Transmission across Chemical Synapses and Butanoate metabolism. GO annotations related to this gene include protein homodimerization activity and aldehyde dehydrogenase (NAD) 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

Enhancers for ALDH5A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F024522 0.8 Ensembl ENCODE 26.2 +27.7 27697 0.9 PTRF ZBTB11 USF2 TBX21 HDAC8 CREB3 MEF2D TFDP1 MAFF RAD51 ALDH5A1 GPLD1 ACOT13 TDP2 PIR52732
GH06F024494 0.9 ENCODE 20.4 +0.4 373 1.6 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 MXD4 MIER3 ALDH5A1 GPLD1 PIR52732
GH06F024504 0.5 ENCODE 16.1 +10.3 10278 1.3 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 SP5 MIER2 PPARG ALDH5A1 GPLD1 PIR52732
GH06F024451 0.7 ENCODE 15 -42.7 -42728 0.8 STAT1 RFX1 HLF TAL1 ZBTB11 CEBPB JUNB GABPA GATA3 GATA2 ALDH5A1 PIR53932
GH06F024399 0.5 Ensembl ENCODE 13.9 -92.9 -92919 5.3 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 MRS2 ALDH5A1 DCDC2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ALDH5A1 on UCSC Golden Path with GeneCards custom track

Promoters for ALDH5A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001213663 348 1601 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 MXD4

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

Genes around ALDH5A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH5A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for ALDH5A1 Gene


Post-translational modifications for ALDH5A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH5A1 Gene

Domains & Families 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 TAS --
GO:0009013 succinate-semialdehyde dehydrogenase [NAD(P)+] activity IBA --
GO:0016491 oxidoreductase activity IEA --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with ALDH5A1: view
genes like me logo Genes that share phenotypes with ALDH5A1: view

Human Phenotype Ontology for ALDH5A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALDH5A1 Gene

MGI Knock Outs for ALDH5A1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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 & Interactions for ALDH5A1 Gene

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

UniProtKB/Swiss-Prot P51649-SSDH_HUMAN

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

Gene Ontology (GO) - Biological Process for ALDH5A1 Gene

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

No data available for SIGNOR curated interactions for ALDH5A1 Gene

Drugs & Compounds for ALDH5A1 Gene

(13) Drugs for ALDH5A1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chlormerodrin Approved, Withdrawn Pharma Target, inhibitor 0
Succinic acid Approved Nutra Full agonist, Agonist, Target, inhibitor 0
Valproic Acid Approved, Investigational Pharma Target, inhibitor HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 322
Methadone Approved Pharma 319
Water Approved Pharma 0

(9) Additional Compounds for ALDH5A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
Succinic acid semialdehyde
  • 2-Formylpropionic acid ethyl ester
  • 3-Formylpropanoate
  • 3-Formylpropanoic acid
  • 4-Oxobutanoate
  • 4-Oxobutanoic acid
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for ALDH5A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ALDH5A1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALDH5A1 Gene

Protein tissue co-expression partners for ALDH5A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALDH5A1 Gene:


SOURCE GeneReport for Unigene cluster for ALDH5A1 Gene:


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 expression patterns with ALDH5A1: view

Primer 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
(Pan troglodytes)
Mammalia ALDH5A1 34 35
  • 99.56 (n)
(Canis familiaris)
Mammalia ALDH5A1 34 35
  • 87.87 (n)
(Bos Taurus)
Mammalia ALDH5A1 34 35
  • 86.12 (n)
(Mus musculus)
Mammalia Aldh5a1 34 16 35
  • 81.96 (n)
(Rattus norvegicus)
Mammalia Aldh5a1 34
  • 81.96 (n)
(Monodelphis domestica)
Mammalia ALDH5A1 35
  • 79 (a)
(Gallus gallus)
Aves ALDH5A1 34 35
  • 72.58 (n)
(Anolis carolinensis)
Reptilia ALDH5A1 35
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh5a1 34
  • 70.8 (n)
(Danio rerio)
Actinopterygii aldh5a1 34 35
  • 67.68 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003165 34
  • 56.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ssadh 34 35
  • 54.8 (n)
CG4685 36
  • 52 (a)
(Caenorhabditis elegans)
Secernentea alh-7 34 35
  • 53.77 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17491g 34
  • 54.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UGA2 34 35 37
  • 53.57 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER007W 34
  • 52.73 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH5F1 34
  • 58.63 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3967 34
(Hordeum vulgare)
Liliopsida Hv.5500 34
(Oryza sativa)
Liliopsida Os.9838 34
(Triticum aestivum)
Liliopsida Ta.5774 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
-- 35
  • 56 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00936 34
  • 57.53 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1002.12c 34
  • 56.52 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6288 34
Species where no ortholog for ALDH5A1 was found in the sources mined by GeneCards:
  • 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
rs118203984 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980], Pathogenic 24,528,049(+) GACAG(A/G)TGGAA reference, missense
rs145087265 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] 24,515,204(+) ATACA(A/G)TGTTA reference, missense
rs375628463 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980], Pathogenic 24,515,243(+) AGTAG(A/G)GGAGG reference, missense
rs72552281 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] 24,503,350(+) TTTAC(A/G)GAGAC reference, missense
rs72552282 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] 24,504,927(+) CGGCT(A/G)TACTG reference, missense

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

Variant ID Type Subtype PubMed ID
esv2648573 CNV deletion 19546169
esv2763542 CNV gain 21179565
esv34020 CNV loss 18971310
nsv1109765 CNV deletion 24896259
nsv519552 CNV gain 19592680
nsv965688 CNV duplication 23825009

Variation tolerance for ALDH5A1 Gene

Residual Variation Intolerance Score: 72.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.79; 83.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALDH5A1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for ALDH5A1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for ALDH5A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
succinic semialdehyde dehydrogenase deficiency
  • 4-hydroxybutyric aciduria
gamma-amino butyric acid metabolism disorder
canavan disease
  • canavan-van bogaert-bertrand disease
gaba-transaminase deficiency
  • gamma-aminobutyric acid transaminase deficiency
brown-sequard syndrome
  • brown-squard syndrome
- elite association - COSMIC cancer census association via MalaCards


  • 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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  2. Redox-switch modulation of human SSADH by dynamic catalytic loop. (PMID: 19300440) Kim Y.-G. … Kim K.-J. (EMBO J. 2009) 3 4 22 64
  3. Cognitive functioning and survival in the elderly: the SSADH C538T polymorphism. (PMID: 18505418) De Rango F. … De Benedictis G. (Ann. Hum. Genet. 2008) 3 22 46 64
  4. Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity. (PMID: 16406321) Lorenz S. … Sander T. (Neurosci. Lett. 2006) 3 22 46 64
  5. An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia. (PMID: 15642443) Zhang B. … Shen Y. (Eur. Psychiatry 2005) 3 22 46 64

Products for ALDH5A1 Gene

Sources for ALDH5A1 Gene

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