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Aliases for ALDH7A1 Gene

Aliases for ALDH7A1 Gene

  • Aldehyde Dehydrogenase 7 Family Member A1 2 3 5
  • Alpha-AASA Dehydrogenase 2 3 4
  • P6c Dehydrogenase 2 3 4
  • Delta1-Piperideine-6-Carboxylate Dehydrogenase 3 4
  • Alpha-Aminoadipic Semialdehyde Dehydrogenase 2 3
  • Betaine Aldehyde Dehydrogenase 3 4
  • 26g Turgor Protein Homolog 2 3
  • Antiquitin-1 3 4
  • ATQ1 3 4
  • Delta1-Piperideine-6-Carboxylate Dehydrogenease 2
  • Aldehyde Dehydrogenase 7 Family, Member A1 2
  • Aldehyde Dehydrogenase Family 7 Member A1 4
  • Antiquitin 1 2
  • EC 4
  • EC 4
  • EC 4
  • EPD 3
  • PDE 3

External Ids for ALDH7A1 Gene

Previous HGNC Symbols for ALDH7A1 Gene

  • ATQ1

Previous GeneCards Identifiers for ALDH7A1 Gene

  • GC05M125514
  • GC05M126254
  • GC05M125909
  • GC05M125956
  • GC05M125908
  • GC05M121069
  • GC05M125877

Summaries for ALDH7A1 Gene

Entrez Gene Summary for ALDH7A1 Gene

  • The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]

GeneCards Summary for ALDH7A1 Gene

ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1) is a Protein Coding gene. Diseases associated with ALDH7A1 include Epilepsy, Pyridoxine-Dependent and Hydrocephalus, Nonsyndromic, Autosomal Recessive 1. Among its related pathways are Glycine, serine and threonine metabolism and Glycerolipid metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor. An important paralog of this gene is ALDH1L2.

UniProtKB/Swiss-Prot for ALDH7A1 Gene

  • Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.

Gene Wiki entry for ALDH7A1 Gene

Additional gene information for ALDH7A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH7A1 Gene

Genomics for ALDH7A1 Gene

GeneHancer (GH) Regulatory Elements for ALDH7A1 Gene

Promoters and enhancers for ALDH7A1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J126592 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 667.2 +1.0 1046 3.1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 ZNF143 FOS KLF13 ALDH7A1 PRRC1 RPLP1P7 TEX43 ENSG00000250602 GRAMD2B RNU6-290P
GH05J126596 Enhancer 0.7 ENCODE 665.8 -1.8 -1807 1.3 ELF3 SOX13 FOXA2 SAP130 JUN ARID4B CEBPG ZNF7 TEAD3 ZNF614 ALDH7A1 PHAX
GH05J126599 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 7.9 -5.3 -5316 3.3 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 PHAX ALDH7A1 GC05M126628
GH05J126543 Enhancer 0.9 ENCODE dbSUPER 15.8 +51.5 51520 0.9 CTCF MXI1 FOXA2 SAP130 MLX MAX RAD21 ARID2 HNF4G ZNF143 ALDH7A1 PHAX RPLP1P7 TEX43 ENSG00000250602 GRAMD2B GC05M126556 ENSG00000279118
GH05J126775 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.7 -182.6 -182574 5.2 CLOCK ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 LMNB1-DT LMNB1 LOC101927488 LINC02039 RNU6-752P TEX43 ALDH7A1 GC05M126868
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALDH7A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALDH7A1 gene promoter:
  • CUTL1
  • GCNF-2
  • GCNF-1
  • GCNF
  • PPAR-gamma2
  • PPAR-gamma1
  • SRY
  • IRF-7A
  • Ik-1
  • POU2F1a

Genomic Locations for ALDH7A1 Gene

Genomic Locations for ALDH7A1 Gene
64,219 bases
Minus strand
53,578 bases
Minus strand

Genomic View for ALDH7A1 Gene

Genes around ALDH7A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH7A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH7A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH7A1 Gene

Proteins for ALDH7A1 Gene

  • Protein details for ALDH7A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Alpha-aminoadipic semialdehyde dehydrogenase
    Protein Accession:
    Secondary Accessions:
    • B2R669
    • B4DIC7
    • B4DMA0
    • E7EPT3
    • O14619
    • Q6IPU8
    • Q9BUL4

    Protein attributes for ALDH7A1 Gene

    539 amino acids
    Molecular mass:
    58487 Da
    Quaternary structure:
    • Homotetramer.
    • Sequence=AAC51935.1; Type=Frameshift; Positions=233, 268; Evidence={ECO:0000305}; Sequence=AAH02515.3; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH71712.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH73174.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG35366.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG58439.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAG59812.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALDH7A1 Gene

    Alternative splice isoforms for ALDH7A1 Gene


neXtProt entry for ALDH7A1 Gene

Post-translational modifications for ALDH7A1 Gene

  • Ubiquitination at posLast=537537, posLast=528528, and Lys452
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ALDH7A1 Gene

Domains & Families for ALDH7A1 Gene

Gene Families for ALDH7A1 Gene

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

Protein Domains for ALDH7A1 Gene

Suggested Antigen Peptide Sequences for ALDH7A1 Gene

GenScript: Design optimal peptide antigens:

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 ALDH7A1: view

Function for ALDH7A1 Gene

Molecular function for ALDH7A1 Gene

UniProtKB/Swiss-Prot Function:
Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-2-amino-6-oxohexanoate + NAD(P)(+) + H(2)O = L-2-aminoadipate + NAD(P)H.
UniProtKB/Swiss-Prot CatalyticActivity:
Betaine aldehyde + NAD(+) + H(2)O = betaine + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=28.5 uM for nonanal {ECO:0000269 PubMed:20207735}; KM=5.3 uM for trans-2-nonenal {ECO:0000269 PubMed:20207735}; KM=39.1 uM for hexanal {ECO:0000269 PubMed:20207735}; KM=17.5 uM for octanal {ECO:0000269 PubMed:20207735}; KM=41.1 uM for betaine aldehyde {ECO:0000269 PubMed:20207735}; KM=169 uM for L-2-aminoadipate 6-semialdehyde {ECO:0000269 PubMed:20207735}; KM=530.2 uM for benzaldehyde {ECO:0000269 PubMed:20207735}; KM=647.4 uM for propanal {ECO:0000269 PubMed:20207735}; KM=7374.3 uM for glyceraldehyde {ECO:0000269 PubMed:20207735}; Vmax=364.9 nmol/min/mg enzyme toward nonanal {ECO:0000269 PubMed:20207735}; Vmax=34.9 nmol/min/mg enzyme toward trans-2-nonenal {ECO:0000269 PubMed:20207735}; Vmax=243.3 nmol/min/mg enzyme toward hexanal {ECO:0000269 PubMed:20207735}; Vmax=72.3 nmol/min/mg enzyme toward octanal {ECO:0000269 PubMed:20207735}; Vmax=101.4 nmol/min/mg enzyme toward betaine aldehyde {ECO:0000269 PubMed:20207735}; Vmax=276.2 nmol/min/mg enzyme toward L-2-aminoadipate 6- semialdehyde {ECO:0000269 PubMed:20207735}; Vmax=125.2 nmol/min/mg enzyme toward benzaldehyde {ECO:0000269 PubMed:20207735}; Vmax=69.9 nmol/min/mg enzyme toward propanal {ECO:0000269 PubMed:20207735}; Vmax=174 nmol/min/mg enzyme toward glyceraldehyde {ECO:0000269 PubMed:20207735};

Enzyme Numbers (IUBMB) for ALDH7A1 Gene

Phenotypes From GWAS Catalog for ALDH7A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004029 aldehyde dehydrogenase (NAD) activity ISS --
GO:0004043 L-aminoadipate-semialdehyde dehydrogenase activity EXP,IBA --
GO:0005515 protein binding IPI 21988832
GO:0008802 betaine-aldehyde dehydrogenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with ALDH7A1: view
genes like me logo Genes that share phenotypes with ALDH7A1: view

Human Phenotype Ontology for ALDH7A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ALDH7A1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH7A1

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ALDH7A1 Gene

Localization for ALDH7A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH7A1 Gene

Cytoplasm, cytosol. Nucleus.
Isoform 1: Mitochondrion.

Subcellular locations from

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 ALDH7A1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 5
nucleus 4
plasma membrane 2
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALDH7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA,IEA --
genes like me logo Genes that share ontologies with ALDH7A1: view

Pathways & Interactions for ALDH7A1 Gene

genes like me logo Genes that share pathways with ALDH7A1: view

UniProtKB/Swiss-Prot P49419-AL7A1_HUMAN

  • Pathway: Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine aldehyde: step 1/1.

Gene Ontology (GO) - Biological Process for ALDH7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006081 cellular aldehyde metabolic process ISS --
GO:0006554 lysine catabolic process TAS --
GO:0007605 sensory perception of sound TAS 9417906
GO:0008152 metabolic process IEA --
GO:0019285 glycine betaine biosynthetic process from choline IEA --
genes like me logo Genes that share ontologies with ALDH7A1: view

No data available for SIGNOR curated interactions for ALDH7A1 Gene

Drugs & Compounds for ALDH7A1 Gene

(13) Drugs for ALDH7A1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Pyridoxine Approved, Investigational, Vet_approved Nutra 198,198
Dihydroartemisinin Approved, Investigational Pharma Target, ligand 100
gamma-Aminobutyric acid Approved, Investigational Pharma 263
Water Approved Pharma 0

(32) Additional Compounds for ALDH7A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2-amino-6-oxo-HEXANOIC ACID
  • 6-oxo-L-Norleucine
  • Allysine
  • L-2-Aminoadipate 6-semialdehyde
  • L-6-Oxonorleucine
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
  • (2S)-2-Methyl-3-oxopropanoate
  • (2S)-2-Methyl-3-oxopropanoic acid
  • Formylacetylene
  • Propargylaldehyde
  • Propioaldehyde
  • Propiolaldehyde
  • 3alpha,7alpha-Dihydroxy-5beta-cholestan-27-al
  • 5beta-Cholestan-27-al-3alpha,7alpha-diol
  • 5beta-Cholestane-3alpha,7alpha-diol-27-al
  • beta-Aminopropion aldehyde
  • b-Aminopropion aldehyde
  • β-aminopropion aldehyde
  • 3-Aminopropanal
genes like me logo Genes that share compounds with ALDH7A1: view

Transcripts for ALDH7A1 Gene

mRNA/cDNA for ALDH7A1 Gene

Unigene Clusters for ALDH7A1 Gene

Aldehyde dehydrogenase 7 family, member A1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH7A1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH7A1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - -
SP2: - -
SP3: - -
SP4: - - - - -

Relevant External Links for ALDH7A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALDH7A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDH7A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDH7A1 Gene

Protein tissue co-expression partners for ALDH7A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALDH7A1 Gene:


SOURCE GeneReport for Unigene cluster for ALDH7A1 Gene:


mRNA Expression by UniProt/SwissProt for ALDH7A1 Gene:

Tissue specificity: Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue.

Evidence on tissue expression from TISSUES for ALDH7A1 Gene

  • Nervous system(5)
  • Liver(4.7)
  • Kidney(4.6)
  • Heart(3.2)
  • Eye(3.1)
  • Muscle(3.1)
  • Lung(3)
  • Skin(2.6)
  • Blood(2.5)
  • Intestine(2.3)
  • Adrenal gland(2.2)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH7A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • nervous
  • respiratory
  • skeletal muscle
Head and neck:
  • brain
  • head
  • lung
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ALDH7A1: view

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for ALDH7A1 Gene

Orthologs for ALDH7A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH7A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ALDH7A1 33
  • 99.44 (n)
(Bos Taurus)
Mammalia ALDH7A1 34 33
  • 90.97 (n)
(Canis familiaris)
Mammalia ALDH7A1 34 33
  • 90.6 (n)
(Ornithorhynchus anatinus)
Mammalia ALDH7A1 34
  • 87 (a)
(Monodelphis domestica)
Mammalia ALDH7A1 34
  • 87 (a)
(Rattus norvegicus)
Mammalia Aldh7a1 33
  • 85.96 (n)
(Mus musculus)
Mammalia Aldh7a1 16 34 33
  • 85.53 (n)
(Gallus gallus)
Aves ALDH7A1 34 33
  • 79.07 (n)
(Anolis carolinensis)
Reptilia ALDH7A1 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh7a1 33
  • 75.93 (n)
Str.6738 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25586 33
(Danio rerio)
Actinopterygii aldh7a1 34 33
  • 75.08 (n)
Dr.2430 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8299 33
fruit fly
(Drosophila melanogaster)
Insecta CG9629 34 35 33
  • 55.77 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000881 33
  • 55.36 (n)
(Caenorhabditis elegans)
Secernentea alh-9 34 33
  • 61.63 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH7B4 33
  • 59.27 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6085 33
(Glycine max)
eudicotyledons Gma.15232 33
(Oryza sativa)
Liliopsida Os09g0440300 33
  • 59.87 (n)
Os.7932 33
(Zea mays)
Liliopsida Zm.4839 33
(Hordeum vulgare)
Liliopsida Hv.2703 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10347 34
  • 62 (a)
Cin.4896 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4896 33
Species where no ortholog for ALDH7A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALDH7A1 Gene

Gene Tree for ALDH7A1 (if available)
Gene Tree for ALDH7A1 (if available)
Evolutionary constrained regions (ECRs) for ALDH7A1: view image

Paralogs for ALDH7A1 Gene

(7) SIMAP similar genes for ALDH7A1 Gene using alignment to 6 proteins:

  • F8VS02_HUMAN
  • F8WD33_HUMAN
  • H0YHM6_HUMAN Pseudogenes for ALDH7A1 Gene

genes like me logo Genes that share paralogs with ALDH7A1: view

Variants for ALDH7A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH7A1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1001193439 uncertain-significance, Pyridoxine-dependent epilepsy 126,543,481(-) A/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1003940901 uncertain-significance, Pyridoxine-dependent epilepsy 126,542,147(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1054168962 uncertain-significance, Pyridoxine-dependent epilepsy 126,542,381(-) G/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1060499755 likely-pathogenic, Abnormality of brain morphology 126,577,158(-) T/C coding_sequence_variant, missense_variant
rs1060502949 likely-pathogenic, Pyridoxine-dependent epilepsy 126,592,730(-) C/G splice_acceptor_variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH7A1 Gene

Variant ID Type Subtype PubMed ID
nsv599662 CNV gain 21841781
nsv462442 CNV gain 19166990
nsv1030016 CNV gain 25217958
esv3606680 CNV gain 21293372
esv3606679 CNV gain 21293372
esv3606678 CNV gain 21293372
esv3566601 CNV deletion 23714750
esv3400328 CNV insertion 20981092
esv2677758 CNV deletion 23128226

Variation tolerance for ALDH7A1 Gene

Residual Variation Intolerance Score: 66.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.67; 72.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH7A1 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 ALDH7A1 Gene

Disorders for ALDH7A1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for ALDH7A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Pyridoxine-dependent epilepsy (PDE) [MIM:266100]: Characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. {ECO:0000269 PubMed:16491085, ECO:0000269 PubMed:17068770}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ALDH7A1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ALDH7A1: view

No data available for Genatlas for ALDH7A1 Gene

Publications for ALDH7A1 Gene

  1. An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1). (PMID: 9417906) Skvorak AB … Morton CC (Genomics 1997) 2 3 4 22 58
  2. Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress. (PMID: 20207735) Brocker C … Vasiliou V (The Journal of biological chemistry 2010) 3 4 22 58
  3. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. (PMID: 17068770) Plecko B … Erwa W (Human mutation 2007) 3 4 22 58
  4. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. (PMID: 16491085) Mills PB … Clayton PT (Nature medicine 2006) 3 4 22 58
  5. Homology between a human protein and a protein of the green garden pea. (PMID: 8088832) Lee P … Beutler E (Genomics 1994) 3 4 22 58

Products for ALDH7A1 Gene

Sources for ALDH7A1 Gene

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