Gene

XDH

Species
Homo sapiens
Symbol
XDH
Name
xanthine dehydrogenase
Synonyms
  • XAN1
  • xanthene dehydrogenase
Biotype
protein coding gene
Automated Description
Enables several functions, including 2 iron, 2 sulfur cluster binding activity; molybdopterin cofactor binding activity; and oxidoreductase activity, acting on CH or CH2 groups. Involved in several processes, including nucleobase-containing small molecule metabolic process; regulation of macromolecule metabolic process; and regulation of signal transduction. Located in extracellular space. Is active in cytosol. Implicated in several diseases, including Lesch-Nyhan syndrome; cardiovascular system disease (multiple); chronic kidney disease; hyperuricemia; and xanthinuria type I. Biomarker of laryngeal squamous cell carcinoma and multiple myeloma.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11908
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
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      Alleles and Variants

      Allele/Variant Symbol
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      Variant
      Variant type
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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            31.34M31.35M31.36M31.37M31.38M31.39M31.40M31.41M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            XDH molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
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              Genetic Interactions

              XDH role
              XDH genetic perturbation
              Interactor gene
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