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Aliases for XDH Gene

Aliases for XDH Gene

  • Xanthine Dehydrogenase 2 3 5
  • Xanthine Dehydrogenase/Oxidase 3
  • Xanthine Oxidoreductase 3
  • Xanthene Dehydrogenase 2
  • XAN1 3
  • XDHA 4
  • XOR 3
  • XO 3

External Ids for XDH Gene

Previous GeneCards Identifiers for XDH Gene

  • GC02M031482
  • GC02M031665
  • GC02M031533
  • GC02M031470
  • GC02M031410

Summaries for XDH Gene

Entrez Gene Summary for XDH Gene

  • Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]

GeneCards Summary for XDH Gene

XDH (Xanthine Dehydrogenase) is a Protein Coding gene. Diseases associated with XDH include Xanthinuria, Type I and Xanthinuria. Among its related pathways are Drug metabolism - cytochrome P450 and Pyrimidine metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and iron ion binding. An important paralog of this gene is AOX1.

UniProtKB/Swiss-Prot for XDH Gene

  • Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (in vitro).

Tocris Summary for XDH Gene

Gene Wiki entry for XDH Gene

Additional gene information for XDH Gene

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

Genomics for XDH Gene

GeneHancer (GH) Regulatory Elements for XDH Gene

Promoters and enhancers for XDH 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
GH02J031411 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 659.4 +0.4 404 5.3 CTCF FOXA2 MAX RAD21 YY1 ZFHX2 GATA3 EGR1 HNF4G FOSL2 XDH EHD3 GC02M031395
GH02J031496 Promoter 0.6 EPDnew 650.2 -82.1 -82071 0.1 PKNOX1 XDH ENSG00000228563 GC02P031438
GH02J031381 Enhancer 1.1 Ensembl ENCODE dbSUPER 10 +30.6 30614 5.4 CTCF JUN MAX BATF RAD21 RFX5 GATA3 POLR2A VEZF1 SCRT2 XDH YIPF4 PIR52882 GC02M031380 GC02M031395
GH02J031400 Enhancer 1 Ensembl ENCODE dbSUPER 7.8 +12.8 12775 2.8 SIN3A EP300 SP1 JUND POLR2A ATF3 ZFP36 ZBTB33 FOSL2 MAFK XDH GC02M031395 GC02M031380 PIR52882
GH02J031980 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.1 -566.2 -566166 1.6 PKNOX1 ATF1 SMAD1 IRF4 RFX5 TCF12 RFXANK FOXK2 BRD9 NFYB XDH MEMO1 GC02P031938 DPY30
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around XDH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the XDH gene promoter:
  • AP-1
  • p53
  • STAT3
  • SRY
  • ATF-2
  • c-Jun
  • c-Fos
  • NF-1

Genomic Locations for XDH Gene

Genomic Locations for XDH Gene
chr2:31,334,309-31,414,749
(GRCh38/hg38)
Size:
80,441 bases
Orientation:
Minus strand
chr2:31,557,187-31,637,611
(GRCh37/hg19)
Size:
80,425 bases
Orientation:
Minus strand

Genomic View for XDH Gene

Genes around XDH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for XDH Gene

Proteins for XDH Gene

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

    Protein Symbol:
    P47989-XDH_HUMAN
    Recommended name:
    Xanthine dehydrogenase/oxidase
    Protein Accession:
    P47989
    Secondary Accessions:
    • Q16681
    • Q16712
    • Q4PJ16

    Protein attributes for XDH Gene

    Size:
    1333 amino acids
    Molecular mass:
    146424 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. Interacts with BTN1A1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for XDH Gene

neXtProt entry for XDH Gene

Post-translational modifications for XDH Gene

  • Subject to partial proteolysis; this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O).
  • Contains sulfhydryl groups that are easily oxidized (in vitro); this alters the enzyme from the dehydrogenase form (D) to the oxidase form (O).
  • Glycosylation at isoforms=1074
  • Modification sites at PhosphoSitePlus

Other Protein References for XDH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for XDH Gene

Domains & Families for XDH Gene

Gene Families for XDH Gene

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

Suggested Antigen Peptide Sequences for XDH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P47989

UniProtKB/Swiss-Prot:

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

Function for XDH Gene

Molecular function for XDH Gene

UniProtKB/Swiss-Prot Function:
Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (in vitro).
UniProtKB/Swiss-Prot CatalyticActivity:
Xanthine + NAD(+) + H(2)O = urate + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
Hypoxanthine + NAD(+) + H(2)O = xanthine + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
Xanthine + H(2)O + O(2) = urate + H(2)O(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Can be converted from the dehydrogenase form (D) to the oxidase form (O) irreversibly by proteolysis or reversibly through the oxidation of sulfhydryl groups.
GENATLAS Biochemistry:
xanthine oxidase (dehydrogenase),catalyzing the oxidation of hypoxanthine to purine and purine to uric acid,adenine nucleotide catalytic pathway

Phenotypes From GWAS Catalog for XDH Gene

Gene Ontology (GO) - Molecular Function for XDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004854 xanthine dehydrogenase activity IDA 8670112
GO:0004855 xanthine oxidase activity IDA,EXP 8670112
GO:0005506 iron ion binding IEA --
GO:0009055 electron transfer activity IEA --
genes like me logo Genes that share ontologies with XDH: view
genes like me logo Genes that share phenotypes with XDH: view

Human Phenotype Ontology for XDH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for XDH Gene

MGI Knock Outs for XDH:
  • Xdh Xdh<tm1Fink>
  • Xdh Xdh<tm1Mrc>

Animal Model Products

CRISPR Products

miRNA for XDH Gene

miRTarBase miRNAs that target XDH

Inhibitory RNA Products

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

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for XDH Gene

Localization for XDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for XDH Gene

Cytoplasm. Peroxisome. Secreted.

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for XDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA,HDA --
GO:0005737 cytoplasm IEA --
GO:0005777 peroxisome IEA --
GO:0005829 cytosol IBA,TAS --
genes like me logo Genes that share ontologies with XDH: view

Pathways & Interactions for XDH Gene

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

Gene Ontology (GO) - Biological Process for XDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IDA 18386220
GO:0001937 negative regulation of endothelial cell proliferation IDA 18386220
GO:0006195 purine nucleotide catabolic process TAS --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 18386220
GO:0007595 lactation IEA --
genes like me logo Genes that share ontologies with XDH: view

No data available for SIGNOR curated interactions for XDH Gene

Drugs & Compounds for XDH Gene

(96) Drugs for XDH Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Febuxostat Approved Pharma inhibitor, Target Xanthine oxidase inhibitor 61
Allopurinol Approved Pharma inhibitor, Target, Enzyme, substrate 154
Azathioprine Approved Pharma Enzyme, substrate 190
Deferoxamine Approved, Investigational Pharma Enzyme, inhibitor 47
Inosine Approved, Investigational Pharma Enzyme, substrate, inducer 0

(98) Additional Compounds for XDH Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,7-Dimethyluric acid
  • 17-Dimethyluric acid
  • 17-Dimethylate
  • 17-Dimethylic acid
  • 1,7-Dimethylate
  • 1,7-Dimethylic acid
1-Methyluric acid
  • 1-Methylurate
708-79-2
1-Methylxanthine
5-Hydroxypyrazinamide
  • 2-carboxamido-5-Hydroxypyrazine
  • 5-Hydroxy-(8ci)-pyrazinecarboxamide
  • 5-Hydroxypyrazinecarboxamide
13924-96-4
Paraxanthine
  • 3,7-dihydro-1,7-Dimethyl-1H-purine-2,6-dione
  • P-Xanthine
  • 1,7-Dimethyl-xanthine
  • 1,7-Dimethylxanthine
611-59-6

(5) Tocris Compounds for XDH Gene

Compound Action Cas Number
1-Methyl-D-tryptophan Indoleamine 2,3-dioxygenase (IDO) inhibitor 110117-83-4
680C91 Potent and selective tryptophan 2,3-dioxygenase (TDO) inhibitor 163239-22-3
Febuxostat Xanthine oxidase inhibitor 144060-53-7
LM 10 Selective tryptophan 2,3-dioxygenase (TDO) inhibitor 1316695-35-8
MDL 72527 Polyamine oxidase (PAO) inhibitor 93565-01-6
genes like me logo Genes that share compounds with XDH: view

Drug Products

Transcripts for XDH Gene

mRNA/cDNA for XDH Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(38) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for XDH Gene

Xanthine dehydrogenase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for XDH Gene

GeneLoc Exon Structure for
XDH
ECgene alternative splicing isoforms for
XDH

Expression for XDH Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x20.8), Small Intestine - Terminal Ileum (x7.1), Esophagus - Mucosa (x6.6), and Colon - Transverse (x6.4).

Protein differential expression in normal tissues from HIPED for XDH Gene

This gene is overexpressed in Milk (58.1).

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



NURSA nuclear receptor signaling pathways regulating expression of XDH Gene:

XDH

SOURCE GeneReport for Unigene cluster for XDH Gene:

Hs.250

mRNA Expression by UniProt/SwissProt for XDH Gene:

P47989-XDH_HUMAN
Tissue specificity: Detected in milk (at protein level).

Evidence on tissue expression from TISSUES for XDH Gene

  • Liver(4.7)
  • Intestine(4.3)
  • Kidney(2.6)

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

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • skeletal muscle
  • urinary
Regions:
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urinary bladder
genes like me logo Genes that share expression patterns with XDH: view

No data available for Protein tissue co-expression partners for XDH Gene

Orthologs for XDH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for XDH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia XDH 34 33
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia XDH 34 33
  • 88.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia XDH 34 33
  • 88.64 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
-- 34
  • 66 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
-- 34
  • 57 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Xdh 33
  • 86.23 (n)
mouse
(Mus musculus)
Mammalia Xdh 16 34 33
  • 85.52 (n)
oppossum
(Monodelphis domestica)
Mammalia XDH 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves XDH 34 33
  • 71.62 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XDH 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497499 33
  • 67.03 (n)
zebrafish
(Danio rerio)
Actinopterygii xdh 34 33
  • 66.77 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ry 34 35 33
  • 57.05 (n)
OneToOne
CG18519 35
  • 31 (a)
CG18516 35
  • 29 (a)
CG18522 35
  • 29 (a)
CG6045 35
  • 29 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007918 33
  • 33.08 (n)
worm
(Caenorhabditis elegans)
Secernentea F55B11.1 34 35 33
  • 51.63 (n)
OneToOne
F15E6.6 35
  • 36 (a)
B0222.9 35
  • 33 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons XDH1 33
  • 52.78 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6666 33
rice
(Oryza sativa)
Liliopsida Os03g0429800 33
  • 53.05 (n)
Os.10786 33
wheat
(Triticum aestivum)
Liliopsida Ta.27265 33
barley
(Hordeum vulgare)
Liliopsida Hv.1130 33
corn
(Zea mays)
Liliopsida Zm.3935 33
bread mold
(Neurospora crassa)
Ascomycetes NCU03350 33
  • 54.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 54 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
CSA.924 34
  • 49 (a)
OneToMany
Cin.13332 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13332 33
Species where no ortholog for XDH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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 XDH Gene

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

Paralogs for XDH Gene

Paralogs for XDH Gene

(1) SIMAP similar genes for XDH Gene using alignment to 2 proteins:

  • XDH_HUMAN
  • Q585T6_HUMAN
genes like me logo Genes that share paralogs with XDH: view

Variants for XDH Gene

Sequence variations from dbSNP and Humsavar for XDH Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1002111679 uncertain-significance, Xanthinuria 31,335,129(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1042039 benign, Xanthinuria 31,335,440(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1054889 benign, Xanthinuria 31,334,442(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs10590467 likely-benign, Xanthinuria 31,335,250(-) AGAG/AG 3_prime_UTR_variant, genic_downstream_transcript_variant
rs119460972 pathogenic, Deficiency of xanthine oxidase 31,386,525(-) G/A/C/T coding_sequence_variant, missense_variant, stop_gained, synonymous_variant

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

Variant ID Type Subtype PubMed ID
dgv3747n100 CNV gain 25217958
esv2544812 CNV insertion 19546169
esv2719874 CNV deletion 23290073
esv2762446 CNV gain 21179565
esv3575212 CNV gain 25503493
esv3583709 CNV loss 25503493
esv3590219 CNV loss 21293372
nsv456030 CNV gain 19166990
nsv581269 CNV gain 21841781

Variation tolerance for XDH Gene

Residual Variation Intolerance Score: 88.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.68; 78.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for XDH Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for XDH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
xanthinuria, type i
  • xan1
xanthinuria
  • xanthinuria, type i
hereditary xanthinuria
  • xanthinuria, type i
adenine phosphoribosyltransferase deficiency
  • aprtd
xanthinuria, type ii
  • xan2
- elite association - COSMIC cancer census association via MalaCards
Search XDH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XDH_HUMAN
  • Xanthinuria 1 (XAN1) [MIM:278300]: A disorder characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. XAN1 is due to isolated xanthine dehydrogenase deficiency. Patients can metabolize allopurinol. {ECO:0000269 PubMed:10844591, ECO:0000269 PubMed:11379872, ECO:0000269 PubMed:14551354, ECO:0000269 PubMed:9153281}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for XDH Gene

xanthinuria type I

Additional Disease Information for XDH

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 XDH: view

Publications for XDH Gene

  1. Human xanthine oxidase changes its substrate specificity to aldehyde oxidase type upon mutation of amino acid residues in the active site: roles of active site residues in binding and activation of purine substrate. (PMID: 17301077) Yamaguchi Y … Nishino T (Journal of biochemistry 2007) 3 4 22 58
  2. Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. (PMID: 9153281) Ichida K … Sakai O (The Journal of clinical investigation 1997) 3 4 22 58
  3. Cloning of the cDNA encoding human xanthine dehydrogenase (oxidase): structural analysis of the protein and chromosomal location of the gene. (PMID: 8224915) Ichida K … Nishino T (Gene 1993) 2 3 4 58
  4. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PMID: 20346360) Roberts KE … Pulmonary Vascular Complications of Liver Disease Study Group (Gastroenterology 2010) 3 44 58
  5. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58

Products for XDH Gene

Sources for XDH Gene

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