rs73922346
This variant is located in the XDH gene.
▶ClinVar annotation
Hereditary xanthinuria type 1; Xanthinuria type II; XDH-related disorder; not provided; Inborn genetic diseases; Uterine corpus endometrial carcinoma
View on ClinVar →About XDH
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]
View all XDH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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