GENE REFERENCE / HGNC:12805

XDH

xanthine dehydrogenase

protein-coding gene2p23.1Gene information

What does this gene do?

The XDH gene provides instructions for making an enzyme called xanthine dehydrogenase. This enzyme is involved in the normal breakdown of purines, which are building blocks of DNA and its chemical cousin, RNA. Specifically, it carries out the final two steps in the process: the conversion of a molecule called hypoxanthine to another molecule called xanthine, and the conversion of xanthine to uric acid, a waste product that is normally excreted in urine and feces.

Xanthine dehydrogenase has been studied extensively because it can be involved in the production of molecules called superoxide radicals. Specifically, xanthine dehydrogenase is sometimes converted to another form called xanthine oxidase, which produces superoxide radicals. These molecules are byproducts of normal cell processes, and they must be broken down regularly to avoid damaging cells. Superoxide radicals are thought to play a role in many diseases, including heart disease and high blood pressure (hypertension).

Researchers suspect that xanthine dehydrogenase plays a role in milk production (lactation) in women. However, the enzyme's role in lactation is unclear.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-05-08. Source review: 2015-12.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,093
Submissions for variants in or overlapping this gene: 1,811
Submissions explicitly reporting this gene: 1,765
Alleles reported pathogenic / likely pathogenic: 61
VariationIDs with uncertain significance: 544
VariationIDs with conflicting classifications: 53

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about XDH?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 61 alleles in XDH reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in XDH.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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