XDH Chromosome 2
Xanthine dehydrogenase
Upload your DNA to see your personal genotypes for variants in XDH.
What This Gene Does
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]
Gene Info
Gene Group
"Flavoproteins|Xanthine dehydrogenase/aldehyde oxidase family"
Locus Type
gene with protein product
Location
2p23.1
Ensembl
ENSG00000158125
Associated Conditions (10)
Xanthinuria type II
Hereditary xanthinuria type 1
XDH-related disorder
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Uterine corpus endometrial carcinoma
Key Variants
RS113345553
Conflicting classifications of pathogenicity
Xanthinuria type II, Hereditary xanthinuria type 1, XDH-related disorder
Health Risk
RS138246330
Conflicting classifications of pathogenicity
Xanthinuria type II, Hereditary xanthinuria type 1, XDH-related disorder
Health Risk
RS138249576
Conflicting classifications of pathogenicity
Xanthinuria type II, XDH-related disorder, Inborn genetic diseases
Health Risk
RS138649664
Conflicting classifications of pathogenicity
Hereditary xanthinuria type 1, Xanthinuria type II, Hereditary xanthinuria type 1
Health Risk
RS138674014
Conflicting classifications of pathogenicity
Hereditary xanthinuria type 1, Xanthinuria type II, Thyroid cancer
Health Risk
RS138936101
Conflicting classifications of pathogenicity
Hereditary xanthinuria type 1, Xanthinuria type II, Hereditary xanthinuria type 1
Health Risk
RS139272198
Conflicting classifications of pathogenicity
Hereditary xanthinuria type 1, Inborn genetic diseases, Xanthinuria type II
Health Risk
RS139515054
Conflicting classifications of pathogenicity
Xanthinuria type II, Hereditary xanthinuria type 1, XDH-related disorder
Health Risk
RS139691722
Conflicting classifications of pathogenicity
Xanthinuria type II, Hereditary xanthinuria type 1, Inborn genetic diseases
Health Risk
RS139772558
Conflicting classifications of pathogenicity
Xanthinuria type II, Hereditary xanthinuria type 1, XDH-related disorder
Health Risk
RS139964785
Conflicting classifications of pathogenicity
Hereditary xanthinuria type 1, Xanthinuria type II, Hereditary xanthinuria type 1
Health Risk
RS139998082
Conflicting classifications of pathogenicity
Xanthinuria type II, Hereditary xanthinuria type 1, Xanthinuria type II
Health Risk
All Variants (81)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1195394908 | Health Risk | Likely pathogenic | Hereditary xanthinuria type 1, Hereditary xanthinuria type 1 |
| RS1281159761 | Health Risk | Likely pathogenic | Hereditary xanthinuria type 1, Hereditary xanthinuria type 1 |
| RS1383065231 | Health Risk | Likely pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS1408237135 | Health Risk | Likely pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS1553411468 | Health Risk | Likely pathogenic | Hereditary xanthinuria type 1, Hereditary xanthinuria type 1 |
| RS2148755274 | Health Risk | Likely pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS2465394635 | Health Risk | Likely pathogenic | Hereditary xanthinuria type 1, Hereditary xanthinuria type 1 |
| RS2465401546 | Health Risk | Likely pathogenic | Hereditary xanthinuria type 1, Hereditary xanthinuria type 1 |
| RS376882470 | Health Risk | Likely pathogenic | Xanthinuria type II, Hereditary xanthinuria type 1, Xanthinuria type II |
| RS758748687 | Health Risk | Likely pathogenic | Hereditary xanthinuria type 1, Hereditary xanthinuria type 1 |
| RS764196019 | Health Risk | Likely pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS1172253757 | Health Risk | Pathogenic | Hereditary xanthinuria type 1, Hereditary xanthinuria type 1 |
| RS1558674294 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS1572530443 | Health Risk | Pathogenic | Hereditary xanthinuria type 1, Hereditary xanthinuria type 1 |
| RS2147994449 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS2148776171 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS2465297906 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS2465407485 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS2465444919 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS72549367 | Health Risk | Pathogenic | Xanthinuria type II, Hereditary xanthinuria type 1, Xanthinuria type II |
| RS748879270 | Health Risk | Pathogenic | Xanthinuria type II, Hereditary xanthinuria type 1, Xanthinuria type II |
| RS751921838 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS760186813 | Health Risk | Pathogenic | Xanthinuria type II, Hereditary xanthinuria type 1, Xanthinuria type II |
| RS772878388 | Health Risk | Pathogenic | Hereditary xanthinuria type 1, Xanthinuria type II, Hereditary xanthinuria type 1 |
| RS773456900 | Health Risk | Pathogenic | Xanthinuria type II, Hereditary xanthinuria type 1, Xanthinuria type II |
| RS777123723 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS778685046 | Health Risk | Pathogenic | Xanthinuria type II, Hereditary xanthinuria type 1, Xanthinuria type II |
| RS866837583 | Health Risk | Pathogenic | Xanthinuria type II, Xanthinuria type II |
| RS119460972 | Health Risk | Pathogenic/Likely pathogenic | Hereditary xanthinuria type 1, Xanthinuria type II, Hereditary xanthinuria type 1 |
| RS1463907198 | Health Risk | Pathogenic/Likely pathogenic | Xanthinuria type II, Hereditary xanthinuria type 1, Xanthinuria type II |
| RS72549369 | Health Risk | Pathogenic/Likely pathogenic | Hereditary xanthinuria type 1, Hereditary xanthinuria type 1 |