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Aliases for AOX1 Gene

Aliases for AOX1 Gene

  • Aldehyde Oxidase 1 2 3 4 5
  • Azaheterocycle Hydroxylase 3 4
  • AO 3 4
  • Aldehyde Oxidase 3
  • EC 1.17.3.- 4
  • EC 1.2.3.1 4
  • AOH1 3

External Ids for AOX1 Gene

Previous GeneCards Identifiers for AOX1 Gene

  • GC02P199667
  • GC02P200175
  • GC02P201414
  • GC02P201653
  • GC02P201276
  • GC02P201158
  • GC02P193302
  • GC02P201450

Summaries for AOX1 Gene

Entrez Gene Summary for AOX1 Gene

  • Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for AOX1 Gene

AOX1 (Aldehyde Oxidase 1) is a Protein Coding gene. Diseases associated with AOX1 include Xanthinuria and Xanthinuria, Type Ii. Among its related pathways are Drug metabolism - cytochrome P450 and NAD metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and electron transfer activity. An important paralog of this gene is XDH.

UniProtKB/Swiss-Prot for AOX1 Gene

  • Oxidase with broad substrate specificity, oxidizing aromatic azaheterocycles, such as N1-methylnicotinamide, N-methylphthalazinium and phthalazine, as well as aldehydes, such as benzaldehyde, retinal, pyridoxal, and vanillin. Plays a key role in the metabolism of xenobiotics and drugs containing aromatic azaheterocyclic substituents. Participates in the bioactivation of prodrugs such as famciclovir, catalyzing the oxidation step from 6-deoxypenciclovir to penciclovir, which is a potent antiviral agent. Is probably involved in the regulation of reactive oxygen species homeostasis. May be a prominent source of superoxide generation via the one-electron reduction of molecular oxygen. Also may catalyze nitric oxide (NO) production via the reduction of nitrite to NO with NADH or aldehyde as electron donor. May play a role in adipogenesis.

Gene Wiki entry for AOX1 Gene

Additional gene information for AOX1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AOX1 Gene

Genomics for AOX1 Gene

GeneHancer (GH) Regulatory Elements for AOX1 Gene

Promoters and enhancers for AOX1 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
GH02J200585 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 656.8 +0.4 421 1.5 ELF3 ARID4B SIN3A DMAP1 ZNF48 ZBTB40 RAD21 YY1 EGR1 THAP11 AOX1 SGO2 GC02P200578 GC02M200587
GH02J200608 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 667.6 +23.5 23510 2.1 JUN ZMYM3 BATF IRF4 POLR2A FOSL2 FOS SMARCC1 CEBPB JUNB AOX1 KCTD18 SGO2 BICD1P1 GC02M200587 GC02P200578
GH02J200614 Enhancer 1.2 Ensembl ENCODE dbSUPER 29.1 +31.5 31508 4.8 FOXA2 BATF RAD21 YY1 FOS RUNX3 RXRA CEBPB REST SP1 AOX1 SGO2 GC02M200587 GC02P200578
GH02J200525 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 16.7 -59.5 -59480 2 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B E2F8 SGO2 ORC2 AOX1 LOC100420110 LOC101927795 BZW1 KCTD18 PIR55109
GH02J200508 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 15.8 -76.0 -76002 2.3 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF207 ZNF143 SP3 SGO2 KCTD18 AOX1 LOC101927741
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AOX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AOX1 gene promoter:
  • NRSF form 2
  • NRSF form 1
  • GR-alpha
  • GR
  • Nkx2-5
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for AOX1 Gene

Genomic Locations for AOX1 Gene
chr2:200,585,868-200,682,241
(GRCh38/hg38)
Size:
96,374 bases
Orientation:
Plus strand
chr2:201,450,591-201,541,787
(GRCh37/hg19)
Size:
91,197 bases
Orientation:
Plus strand

Genomic View for AOX1 Gene

Genes around AOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AOX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AOX1 Gene

Proteins for AOX1 Gene

  • Protein details for AOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06278-AOXA_HUMAN
    Recommended name:
    Aldehyde oxidase
    Protein Accession:
    Q06278
    Secondary Accessions:
    • O14765
    • Q53RR8
    • Q53TV3
    • Q9BYF0
    • Q9UPG6

    Protein attributes for AOX1 Gene

    Size:
    1338 amino acids
    Molecular mass:
    147918 Da
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Cofactor:
    Name=Mo-molybdopterin; Xref=ChEBI:CHEBI:71302;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • AOX genes evolved from a xanthine oxidoreductase ancestral precursor via a series of gene duplication and suppression/deletion events. Different animal species contain a different complement of AOX genes encoding an equivalent number of AOX isoenzymes. In mammals, the two extremes are represented by certain rodents such as mice and rats, which are endowed with 4 AOX genes, and by humans, whose genome is characterized by a single active gene (PubMed:22335465).
    SequenceCaution:
    • Sequence=AAA96650.1; Type=Frameshift; Positions=284, 286, 294, 302; Evidence={ECO:0000305}; Sequence=AAB83966.1; Type=Frameshift; Positions=284, 286, 294, 302; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AOX1 Gene

neXtProt entry for AOX1 Gene

Post-translational modifications for AOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AOX1 Gene

No data available for DME Specific Peptides for AOX1 Gene

Domains & Families for AOX1 Gene

Gene Families for AOX1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for AOX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q06278

UniProtKB/Swiss-Prot:

AOXA_HUMAN :
  • Belongs to the xanthine dehydrogenase family.
Family:
  • Belongs to the xanthine dehydrogenase family.
genes like me logo Genes that share domains with AOX1: view

Function for AOX1 Gene

Molecular function for AOX1 Gene

UniProtKB/Swiss-Prot Function:
Oxidase with broad substrate specificity, oxidizing aromatic azaheterocycles, such as N1-methylnicotinamide, N-methylphthalazinium and phthalazine, as well as aldehydes, such as benzaldehyde, retinal, pyridoxal, and vanillin. Plays a key role in the metabolism of xenobiotics and drugs containing aromatic azaheterocyclic substituents. Participates in the bioactivation of prodrugs such as famciclovir, catalyzing the oxidation step from 6-deoxypenciclovir to penciclovir, which is a potent antiviral agent. Is probably involved in the regulation of reactive oxygen species homeostasis. May be a prominent source of superoxide generation via the one-electron reduction of molecular oxygen. Also may catalyze nitric oxide (NO) production via the reduction of nitrite to NO with NADH or aldehyde as electron donor. May play a role in adipogenesis.
UniProtKB/Swiss-Prot CatalyticActivity:
An aldehyde + H(2)O + O(2) = a carboxylate + H(2)O(2).
UniProtKB/Swiss-Prot CatalyticActivity:
Retinal + O(2) + H(2)O = retinoate + H(2)O(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Is very potently inhibited by raloxifene (PubMed:26842593). Also inhibited by estradiol, ethinyl estradiol, hydralazine, menadione, isovanillin and thioridazine. Not inhibited by allopurinol, a xanthine dehydrogenase potent inhibitor (PubMed:22031625, PubMed:22522748, PubMed:22996261, PubMed:9224775, PubMed:26322824).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.6 uM for benzaldehyde (in the presence of 2,6- dichlorophenol indophenol as electron acceptor) {ECO:0000269 PubMed:26842593}; KM=45.18 uM for benzaldehyde (in the presence of ferricyanide as electron acceptor) {ECO:0000269 PubMed:26842593}; KM=1.3 uM for phthalazine (at 25 degrees Celsius and pH 7.5) {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; KM=8.96 uM for phthalazine (in the presence of 2,6- dichlorophenol indophenol as electron acceptor) {ECO:0000269 PubMed:26842593}; KM=125.7 uM for phthalazine (in the presence of ferricyanide as electron acceptor) {ECO:0000269 PubMed:26842593}; KM=0.78 uM for phenanthridine (in the pres 2,6-dichlorophenol indophenol as electron acceptor) {ECO:0000269 PubMed:26842593}; KM=25.5 uM for phenanthridine (in the presence of ferricyanide as electron acceptor) {ECO:0000269 PubMed:26842593}; KM=26.53 uM for phenanthridine (in the presence of molecular oxygen as electron acceptor) {ECO:0000269 PubMed:26842593}; KM=3.9 uM for phenanthridine (at 25 degrees Celsius and pH 7.5) {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; KM=5.2 uM for chloroquinazolinone (at 25 degrees Celsius and pH 7.5) {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; KM=0.42 mM for 6-deoxypenciclovir (at 37 degrees Celsius and pH 7) {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; KM=0.15 mM for famciclovir (at 37 degrees Celsius and pH 7) {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; KM=6.3 uM for N-[(2-dimethylamino)ethyl]acridine-4-carboxamide (at 37 degrees Celsius and pH 7.4) {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; Vmax=16 nmol/min/mg enzyme with 6-deoxypenciclovir as substrate {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; Vmax=61 nmol/min/mg enzyme with famciclovir as substrate {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; Vmax=2.3 nmol/min/mg enzyme with N-[(2- dimethylamino)ethyl]acridine-4-carboxamide as substrate {ECO:0000269 PubMed:22279051, ECO:0000269 PubMed:22996261, ECO:0000269 PubMed:9224775}; Note=kcat is 6.4 min(-1) for benzaldehyde oxidation, 5.6 min(-1) for phthalazine oxidation, 12.2 min(-1) for phenanthridine oxidation and 5.6 min(-1) for chloroquinazolinone oxidation. {ECO:0000269 PubMed:22279051};
UniProtKB/Swiss-Prot Induction:
In liver, is down-regulated by adiponectin and by the PPARA agonist, fenofibric acid.
GENATLAS Biochemistry:
aldehyde oxidase expressed in glial cell of spinal cord

Enzyme Numbers (IUBMB) for AOX1 Gene

Phenotypes From GWAS Catalog for AOX1 Gene

Gene Ontology (GO) - Molecular Function for AOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004031 aldehyde oxidase activity TAS --
GO:0004854 xanthine dehydrogenase activity IBA --
GO:0005506 iron ion binding IDA 26322824
GO:0009055 electron transfer activity IEA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with AOX1: view
genes like me logo Genes that share phenotypes with AOX1: view

Animal Model Products

miRNA for AOX1 Gene

miRTarBase miRNAs that target AOX1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AOX1 Gene

Localization for AOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AOX1 Gene

Cytoplasm.

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 AOX1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 2
peroxisome 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for AOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IBA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with AOX1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AOX1 Gene

Pathways & Interactions for AOX1 Gene

genes like me logo Genes that share pathways with AOX1: view

Gene Ontology (GO) - Biological Process for AOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009115 xanthine catabolic process IBA --
GO:0017144 drug metabolic process IDA 20444863
GO:0022900 electron transport chain IEA --
GO:0042816 vitamin B6 metabolic process TAS --
GO:0055114 oxidation-reduction process IDA,IEA 22279051
genes like me logo Genes that share ontologies with AOX1: view

No data available for SIGNOR curated interactions for AOX1 Gene

Drugs & Compounds for AOX1 Gene

(58) Drugs for AOX1 Gene - From: DrugBank, PharmGKB, ApexBio, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Allopurinol Approved Pharma Enzyme, substrate 154
Brimonidine Approved Pharma Partial agonist, Agonist, Full agonist, Enzyme, substrate 0
Famciclovir Approved, Investigational Pharma Enzyme, substrate 19
Methotrexate Approved Pharma Enzyme, substrate Folate antagonist,inhibits DFHR 1603
Pyrazinamide Approved, Investigational Pharma Enzyme, substrate 94

(53) Additional Compounds for AOX1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
  • (2S)-2-Methyl-3-oxopropanoate
  • (2S)-2-Methyl-3-oxopropanoic acid
99043-16-0
1-Methylnicotinamide
  • 1-Methylnicotinamide cation
  • 3-(Aminocarbonyl)-1-methylpyridinium
  • N(1)-Methylnicotinamide
  • Trigonellinamide
  • 1-Methyl-3-carbamoylpyridinium
3106-60-3
2-(dimethylamino)acetaldehyde
2-(methylamino)acetaldehyde
2-benzylheptanal

(1) ApexBio Compounds for AOX1 Gene

Compound Action Cas Number
Carbazeran citrate 153473-94-0
genes like me logo Genes that share compounds with AOX1: view

Drug Products

Transcripts for AOX1 Gene

Unigene Clusters for AOX1 Gene

Aldehyde oxidase 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AOX1 Gene

No ASD Table

Relevant External Links for AOX1 Gene

GeneLoc Exon Structure for
AOX1
ECgene alternative splicing isoforms for
AOX1

Expression for AOX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AOX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AOX1 Gene

This gene is overexpressed in Liver (x15.0) and Adrenal Gland (x8.1).

Protein differential expression in normal tissues from HIPED for AOX1 Gene

This gene is overexpressed in Liver, secretome (39.3) and Liver (18.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AOX1 Gene



NURSA nuclear receptor signaling pathways regulating expression of AOX1 Gene:

AOX1

SOURCE GeneReport for Unigene cluster for AOX1 Gene:

Hs.406238

mRNA Expression by UniProt/SwissProt for AOX1 Gene:

Q06278-AOXA_HUMAN
Tissue specificity: Abundant in liver, expressed in adipose tissue and at lower levels in lung, skeletal muscle, pancreas. In contrast to mice, no significant gender difference in AOX1 expression level (at protein level).

Evidence on tissue expression from TISSUES for AOX1 Gene

  • Liver(4.9)
  • Intestine(4.4)
  • Adrenal gland(3.2)
  • Gall bladder(2.9)
  • Kidney(2.9)
genes like me logo Genes that share expression patterns with AOX1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AOX1 Gene

Orthologs for AOX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AOX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AOX1 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AOX1 34 33
  • 87.99 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aox1 16 34 33
  • 84.2 (n)
rat
(Rattus norvegicus)
Mammalia Aox1 33
  • 83.5 (n)
oppossum
(Monodelphis domestica)
Mammalia AOX1 34
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 70 (a)
OneToMany
AOH2 34
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia AOX1 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves AOX1 33
  • 68.92 (n)
AOX2P 34
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AOX1 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495429 33
  • 65.65 (n)
zebrafish
(Danio rerio)
Actinopterygii aox1 34
  • 55 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.568 33
fruit fly
(Drosophila melanogaster)
Insecta ry 35
  • 44 (a)
CG6045 34 35
  • 29 (a)
ManyToMany
CG18516 34
  • 29 (a)
ManyToMany
CG18522 34
  • 29 (a)
ManyToMany
CG18519 34 35
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F55B11.1 35
  • 40 (a)
gad-3 34
  • 34 (a)
ManyToMany
F15E6.6 34 35
  • 34 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
ManyToMany
Species where no ortholog for AOX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AOX1 Gene

ENSEMBL:
Gene Tree for AOX1 (if available)
TreeFam:
Gene Tree for AOX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AOX1: view image

Paralogs for AOX1 Gene

Paralogs for AOX1 Gene

(1) SIMAP similar genes for AOX1 Gene using alignment to 4 proteins:

  • AOXA_HUMAN
  • C9J244_HUMAN
  • H7BXF7_HUMAN
  • H7C3Q1_HUMAN

Pseudogenes.org Pseudogenes for AOX1 Gene

genes like me logo Genes that share paralogs with AOX1: view

Variants for AOX1 Gene

Sequence variations from dbSNP and Humsavar for AOX1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000045742 -- 200,672,795(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000061218 -- 200,613,869(+) G/A coding_sequence_variant, missense_variant
rs1000108642 -- 200,591,290(+) A/G intron_variant
rs1000116028 -- 200,674,104(+) A/C genic_downstream_transcript_variant, intron_variant
rs1000124586 -- 200,605,152(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AOX1 Gene

Variant ID Type Subtype PubMed ID
nsv477382 CNV novel sequence insertion 20440878
esv3893531 CNV loss 25118596

Variation tolerance for AOX1 Gene

Residual Variation Intolerance Score: 8.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.86; 74.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AOX1 Gene

Human Gene Mutation Database (HGMD)
AOX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AOX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AOX1 Gene

Disorders for AOX1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for AOX1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
xanthinuria
  • xanthinuria, type i
xanthinuria, type ii
  • xan2
xanthinuria, type i
  • xan1
molybdenum cofactor deficiency
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
hereditary xanthinuria
  • xanthinuria, type i
- elite association - COSMIC cancer census association via MalaCards
Search AOX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AOX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AOX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AOX1 Gene

Publications for AOX1 Gene

  1. In vitro-in vivo correlation for intrinsic clearance for drugs metabolized by human aldehyde oxidase. (PMID: 20444863) Zientek M … Obach RS (Drug metabolism and disposition: the biological fate of chemicals 2010) 3 4 25 58
  2. Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease. (PMID: 19500084) Smith MA … Sanderson JD (Alimentary pharmacology & therapeutics 2009) 3 22 44 58
  3. Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. (PMID: 11302742) Ichida K … Nishino T (Biochemical and biophysical research communications 2001) 3 4 22 58
  4. In vitro oxidation of famciclovir and 6-deoxypenciclovir by aldehyde oxidase from human, guinea pig, rabbit, and rat liver. (PMID: 9224775) Rashidi MR … Beedham C (Drug metabolism and disposition: the biological fate of chemicals 1997) 4 22 25 58
  5. Analysis of aldehyde oxidase and xanthine dehydrogenase/oxidase as possible candidate genes for autosomal recessive familial amyotrophic lateral sclerosis. (PMID: 7570184) Berger R … Patterson D (Somatic cell and molecular genetics 1995) 2 3 22 58

Products for AOX1 Gene

Sources for AOX1 Gene

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