AlphaFold predicted structure
XDH · P47989
Mean pLDDT
96.0/ 100
Very high
1,333 residues
Confidence breakdown
- Very high(≥ 90)94%
- Confident(70–90)4%
- Low(50–70)1%
- Very low(< 50)2%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
XDH
Chr 2p23.1xanthine dehydrogenase
- Aliases:
- XOR, XO, XDH/XO
- MANE:
- ENST00000379416.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalNephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Disease associations (Open Targets)
xanthinuria type I
0.74gout
0.70leukemia
0.60hyperuricemia
0.60lymphoma
0.60xanthinuria type II
0.56cancer
0.41Myalgia
0.37eye inflammation
0.37Arthralgia
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Xanthine dehydrogenase/oxidase
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)
Diseases associated with XDH
Curated MONDO disease pages that list XDH among their top associated genes.