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Gene

XDH

xanthine dehydrogenase

Summary

Cytogenetic location
2p23.1
Coordinates
Chromosome 2: 31,334,321–31,414,742 (GRCh38)
Exons
36 exons across 80.4 kb
Protein
1,333 amino acids
Inheritance
Autosomal recessive
Also known as
XOR, XO, XDH/XO
MANE Select transcript
ENST00000379416.4NM_000379.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Purine & Pyrimidine Metabolism Disorders

    • Hereditary XanthinuriaAutosomal recessive

      Caused by variants in XDH or MOCOS, which cause very low uric acid and can lead to xanthine kidney stones.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows a high fluid intake and a low-purine diet to reduce the risk of stones.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How XDH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where XDH sits. XDH and 6 genes near it on chromosome 2, from 30,874,532 to 31,874,531.Chromosome 22p23.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.331 Mb31.2 Mb31.4 Mb31.6 Mb31.8 MbGALNT14: 30,898,696–31,155,202, reverse strandGALNT14CAPN14: 31,173,056–31,234,011, reverse strandCAPN14EHD3: 31,233,943–31,275,384, forward strandEHD3XDH: 31,334,321–31,414,742, reverse strandXDHSRD5A2: 31,522,480–31,580,943, reverse strandSRD5A2MEMO1: 31,865,060–32,011,230, reverse strandMEMO1DPY30: 31,867,809–32,039,832, reverse strandDPY30Diagram of XDH: 36 exons on the reverse strand of chromosome 2Exon 35: 2 known disease-causing sitesExon 34: 1 known disease-causing siteExon 32: 2 known disease-causing sitesExon 30: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 26: 1 known disease-causing siteExon 25: 1 known disease-causing siteExon 24: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 21: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 19: 2 known disease-causing sitesExon 18: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 14: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 3 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 36: 31,334,321–31,336,008, 1,688 basesExon 35: 31,337,641–31,337,817, 177 basesExon 34: 31,339,489–31,339,677, 189 basesExon 33: 31,341,329–31,341,394, 66 basesExon 32: 31,342,183–31,342,297, 115 basesExon 31: 31,344,684–31,344,736, 53 basesExon 30: 31,346,769–31,346,843, 75 basesExon 29: 31,347,522–31,347,650, 129 basesExon 28: 31,348,268–31,348,363, 96 basesExon 27: 31,348,899–31,348,980, 82 basesExon 26: 31,349,686–31,349,831, 146 basesExon 25: 31,350,032–31,350,223, 192 basesExon 24: 31,364,158–31,364,244, 87 basesExon 23: 31,365,457–31,365,544, 88 basesExon 22: 31,365,976–31,366,109, 134 basesExon 21: 31,366,870–31,366,994, 125 basesExon 20: 31,367,961–31,368,057, 97 basesExon 19: 31,368,541–31,368,660, 120 basesExon 18: 31,370,355–31,370,478, 124 basesExon 17: 31,372,228–31,372,397, 170 basesExon 16: 31,373,873–31,373,956, 84 basesExon 15: 31,375,380–31,375,554, 175 basesExon 14: 31,377,053–31,377,237, 185 basesExon 13: 31,379,867–31,379,976, 110 basesExon 12: 31,381,633–31,381,726, 94 basesExon 11: 31,383,001–31,383,152, 152 basesExon 10: 31,383,755–31,383,847, 93 basesExon 9: 31,386,414–31,386,555, 142 basesExon 8: 31,387,811–31,387,897, 87 basesExon 7: 31,388,227–31,388,295, 69 basesExon 6: 31,397,668–31,397,729, 62 basesExon 5: 31,398,573–31,398,699, 127 basesExon 4: 31,401,220–31,401,328, 109 basesExon 3: 31,403,048–31,403,144, 97 basesExon 2: 31,405,907–31,405,964, 58 basesExon 1: 31,414,625–31,414,742, 118 bases36353025201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.7 kb of the gene's 80.4 kb; 4,002 of those bases code for the protein.

How a genome test reads XDH

50

positions in XDH where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 80.4 kb of XDH, introns included, not only the 5.7 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). XDH gene: xanthine dehydrogenase. Retrieved 17 October 2026, from https://dantelabs.com/genes/xdh

Vancouver

Dante Labs. XDH gene: xanthine dehydrogenase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/xdh

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