Gene: XDH

Alternate names for this Gene: XAN1|XO|XOR

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.1

Description of this Gene: xanthine dehydrogenase

Type of Gene: protein-coding

rs113923480 in XDH gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs2073316 in XDH gene and Interleukin 18 Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs72549369 in XDH gene and Xanthinuria, Type I PMID 14551354 2003 Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria.

PMID 11379872 2001 Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria.

PMID 10844591 2000 XDH gene mutation is the underlying cause of classical xanthinuria: a second report.

PMID 9153281 1997 Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.

rs148412639 in XDH gene and Xanthinuria, Type II PMID 9153281 1997 Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.