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 accu... See more...

Aliases for ALDH5A1 Gene

Aliases for ALDH5A1 Gene

  • Aldehyde Dehydrogenase 5 Family Member A1 2 3 5
  • SSADH 2 3 4
  • NAD(+)-Dependent Succinic Semialdehyde Dehydrogenase 3 4
  • Succinate-Semialdehyde Dehydrogenase, Mitochondrial 3 4
  • EC 1.2.1.24 4 50
  • SSDH 2 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 50
  • ALDH5A1 5

External Ids for ALDH5A1 Gene

Previous GeneCards Identifiers for ALDH5A1 Gene

  • GC06P024552
  • GC06P024603
  • GC06P024444

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 Butanoate metabolism and Neurotransmitter Release Cycle. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1L1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALDH5A1 Gene

Genomics for ALDH5A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ALDH5A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J024494 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 270.3 +0.2 234 2.2 ZNF207 MYC ZNF600 ZNF592 ZNF10 POLR2A ZIC2 YY1 MXD4 NONO ALDH5A1 GPLD1 NONHSAG043179.2 lnc-GPLD1-2 RF00017-4881
GH06J024496 Promoter 0.5 Ensembl 250.7 +1.8 1833 0.2 ATF2 ATF7 ALDH5A1 GPLD1 NONHSAG043179.2 lnc-GPLD1-2 piR-57392-004 RF00017-4881 KIAA0319
GH06J024399 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 13.9 -92.3 -92315 6.5 MYC NCOR1 IKZF1 ZNF600 ZNF580 ZNF592 ZMYM3 ATF2 POLR2A CEBPA MRS2 HSALNG0048610 piR-61279 ALDH5A1 HSALNG0048608 DCDC2
GH06J024522 Enhancer 1.1 Ensembl ENCODE 26.2 +27.1 27134 2.4 MYC ZNF592 POLR2A KLF11 SIN3A TRIM22 BHLHE40 TBP ZNF341 HOMEZ ALDH5A1 GPLD1 TDP2 ACOT13 piR-58733 piR-57392-004 RF00017-4881 KIAA0319
GH06J024504 Promoter/Enhancer 1.2 Ensembl ENCODE 16.1 +10.3 10262 1.3 SSRP1 KLF9 CEBPA CHD4 YY1 MXD4 CEBPB HOMEZ ZNF217 KMT2B ALDH5A1 GPLD1 NONHSAG043179.2 piR-57392-004 RF00017-4881 piR-58733 KIAA0319
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALDH5A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALDH5A1

Top Transcription factor binding sites by QIAGEN in the ALDH5A1 gene promoter:
  • Cart-1
  • Cdc5
  • FOXO3
  • LyF-1
  • Max1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • p53
  • RFX1

Genomic Locations for ALDH5A1 Gene

Latest Assembly
chr6:24,494,867-24,537,207
(GRCh38/hg38)
Size:
42,341 bases
Orientation:
Plus strand

Previous Assembly
chr6:24,495,197-24,537,435
(GRCh37/hg19 by Entrez Gene)
Size:
42,239 bases
Orientation:
Plus strand

chr6:24,495,080-24,537,435
(GRCh37/hg19 by Ensembl)
Size:
42,356 bases
Orientation:
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:
    P51649-SSDH_HUMAN
    Recommended name:
    Succinate-semialdehyde dehydrogenase, mitochondrial
    Protein Accession:
    P51649
    Secondary Accessions:
    • B2RD26
    • G5E949
    • Q546H9
    • Q8N3W6

    Protein attributes for ALDH5A1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH5A1 Gene

Selected DME Specific Peptides for ALDH5A1 Gene

P51649:
  • FLEWFSEEARR
  • VTGGKRHQLGKNFFEPTLLCNVTQDMLCTHEETFGPLAP
  • ITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTP
  • EARAAVRAAY
  • FLVQRGIHD
  • ASKFRNTGQTCVCSN
  • DSFVGGRWLP
  • AIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNE
  • SGLGREG
  • TGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAV
  • AMITRKVG
  • GVYNVIPCSR
  • VGVNEGLIS
  • KQSGLGR
  • GTTQGPLIN
  • ITPWNFP
  • APFIVFD
  • CTDPLVSKISFTGST
  • PAPGPAQLR
  • TPFSALALAELA
  • IITAESGKPLKEA
  • GPLINEK
  • WREVSAKERSSLLRKWY
  • GAALAAGCT

Post-translational modifications for ALDH5A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ALDH5A1 Gene

Gene Families for ALDH5A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ALDH5A1 Gene

Suggested Antigen Peptide Sequences for ALDH5A1 Gene

GenScript: Design optimal peptide antigens:
  • Succinic semialdehyde dehydrogenase (Q546H9_HUMAN)
  • Succinic semialdehyde dehydrogenase (Q8N3W6_HUMAN)
  • Succinate semialdehyde dehydrogenase (Q8N3W7_HUMAN)
  • NAD(+)-dependent succinic semialdehyde dehydrogenase (SSDH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51649

UniProtKB/Swiss-Prot:

SSDH_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
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

UniProtKB/Swiss-Prot Function:
Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + NAD(+) + succinate semialdehyde = 2 H(+) + NADH + succinate; Xref=Rhea:RHEA:13217, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30031, ChEBI:CHEBI:57540, ChEBI:CHEBI:57706, ChEBI:CHEBI:57945; EC=1.2.1.24;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Redox-regulated. Inhibited under oxydizing conditions. Inhibited by hydrogen peroxide H(2)O(2).
GENATLAS Biochemistry:
NAD+ dependent succinic semialdehyde dehydrogenase,involved in the biosynthesis of gammahydroxybutyrate and in the detoxification of xenobiotic carbonyl compounds

Enzyme Numbers (IUBMB) for ALDH5A1 Gene

Phenotypes From GWAS Catalog for ALDH5A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004777 succinate-semialdehyde dehydrogenase (NAD+) activity TAS --
GO:0009013 succinate-semialdehyde dehydrogenase [NAD(P)+] activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA --
GO:0042802 identical protein binding IPI 16199352
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH5A1

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

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH5A1 gene
Compartment Confidence
mitochondrion 5
peroxisome 2
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0006105 succinate metabolic process ISS --
GO:0006536 glutamate metabolic process ISS --
GO:0007417 central nervous system development IMP 9683595
GO:0009448 gamma-aminobutyric acid metabolic process IEA --
GO:0009450 gamma-aminobutyric acid catabolic process IMP 15037717
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Chlormerodrin Approved, Withdrawn Pharma Target, inhibitor 0
Succinic acid Approved Nutra Target, inhibitor 0
Sodium oxybate Approved Pharma Enzyme, substrate 56
Valproic acid Approved, Investigational Pharma Target, inhibitor HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 387

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
Succinic acid semialdehyde
  • 3-Formylpropanoic acid
  • 3-Formylpropionic acid
  • 4-Oxobutanoate
  • beta-Formylpropionic acid
  • Semialdehyde succinique
692-29-5
genes like me logo Genes that share compounds with ALDH5A1: view

Transcripts for ALDH5A1 Gene

mRNA/cDNA for ALDH5A1 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH5A1

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: - -
SP3:

Relevant External Links for ALDH5A1 Gene

GeneLoc Exon Structure for
ALDH5A1

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, MaxQB, and MOPED for ALDH5A1 Gene



Protein tissue co-expression partners for ALDH5A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALDH5A1

SOURCE GeneReport for Unigene cluster for ALDH5A1 Gene:

Hs.371723

mRNA Expression by UniProt/SwissProt for ALDH5A1 Gene:

P51649-SSDH_HUMAN
Tissue specificity: Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.

Evidence on tissue expression from TISSUES for ALDH5A1 Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Blood(4.4)
  • Kidney(2.6)
  • Heart(2.5)
  • Muscle(2.2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH5A1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • eye
  • head
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ALDH5A1: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia ALDH5A1 29 30
  • 99.56 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ALDH5A1 29 30
  • 87.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ALDH5A1 29 30
  • 86.12 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Aldh5a1 29 16 30
  • 81.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aldh5a1 29
  • 81.96 (n)
Oppossum
(Monodelphis domestica)
Mammalia ALDH5A1 30
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ALDH5A1 29 30
  • 72.58 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ALDH5A1 30
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aldh5a1 29
  • 70.8 (n)
Zebrafish
(Danio rerio)
Actinopterygii aldh5a1 29 30
  • 67.68 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003165 29
  • 56.6 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Ssadh 29 30
  • 54.8 (n)
OneToOne
CG4685 31
  • 52 (a)
Worm
(Caenorhabditis elegans)
Secernentea alh-7 29 30
  • 53.77 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17491g 29
  • 54.14 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UGA2 29 30 32
  • 53.57 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER007W 29
  • 52.73 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ALDH5F1 29
  • 58.63 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3967 29
Barley
(Hordeum vulgare)
Liliopsida Hv.5500 29
Rice
(Oryza sativa)
Liliopsida Os.9838 29
Wheat
(Triticum aestivum)
Liliopsida Ta.5774 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 65 (a)
OneToMany
-- 30
  • 56 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU00936 29
  • 57.53 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1002.12c 29
  • 56.52 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.6288 29
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

ENSEMBL:
Gene Tree for ALDH5A1 (if available)
TreeFam:
Gene Tree for ALDH5A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALDH5A1: view image
Alliance of Genome Resources:
Additional Orthologs for ALDH5A1

Paralogs for ALDH5A1 Gene

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

  • SSDH_HUMAN
  • C9J8Q5_HUMAN
  • F5H328_HUMAN
  • Q8N3W7_HUMAN
genes like me logo Genes that share paralogs with ALDH5A1: view

Variants for ALDH5A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALDH5A1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1002546 Uncertain Significance: Succinate-semialdehyde dehydrogenase deficiency 24,515,234(+) A/C
NM_001080.3(ALDH5A1):c.794A>C (p.Lys265Thr)
MISSENSE_VARIANT,INTRON
1004401 Uncertain Significance: Succinate-semialdehyde dehydrogenase deficiency 24,503,338(+) C/T
NM_001080.3(ALDH5A1):c.514C>T (p.Arg172Cys)
MISSENSE
1005844 Uncertain Significance: Succinate-semialdehyde dehydrogenase deficiency 24,504,935(+) G/T
NM_001080.3(ALDH5A1):c.676G>T (p.Val226Leu)
MISSENSE
1006466 Uncertain Significance: Succinate-semialdehyde dehydrogenase deficiency 24,495,076(+) G/A
NM_001080.3(ALDH5A1):c.80G>A (p.Arg27His)
MISSENSE
1006807 Uncertain Significance: Succinate-semialdehyde dehydrogenase deficiency 24,503,433(+) G/A
NM_001080.3(ALDH5A1):c.609G>A (p.Pro203=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ALDH5A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ALDH5A1 Gene

Human Gene Mutation Database (HGMD)
ALDH5A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH5A1
Leiden Open Variation Database (LOVD)
ALDH5A1

SNP Genotyping and Copy Number Assays for research

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

Disorders for ALDH5A1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for ALDH5A1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
succinic semialdehyde dehydrogenase deficiency
  • ssadhd
gamma-amino butyric acid metabolism disorder
  • disorder of gamma-aminobutyric acid metabolism
canavan disease
  • canavan-van bogaert-bertrand disease
juvenile absence epilepsy
  • epilepsy juvenile absence
fetal akinesia deformation sequence 1
  • fads1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SSDH_HUMAN
  • 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 variants affecting the gene represented in this entry.

Genatlas disease for ALDH5A1 Gene

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

Additional Disease Information for ALDH5A1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ALDH5A1: view

Publications for ALDH5A1 Gene

  1. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. (PMID: 14635103) Akaboshi S … Gibson KM (Human mutation 2003) 3 4 22 72
  2. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). (PMID: 9683595) Chambliss KL … Gibson KM (American journal of human genetics 1998) 3 4 22 72
  3. Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression. (PMID: 7814412) Chambliss KL … Gibson KM (The Journal of biological chemistry 1995) 2 3 4 22
  4. Redox-switch modulation of human SSADH by dynamic catalytic loop. (PMID: 19300440) Kim YG … Kim KJ (The EMBO journal 2009) 3 4 22
  5. Cognitive functioning and survival in the elderly: the SSADH C538T polymorphism. (PMID: 18505418) De Rango F … De Benedictis G (Annals of human genetics 2008) 3 22 40

Products for ALDH5A1 Gene

Sources for ALDH5A1 Gene