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DHODH gene

dihydroorotate dehydrogenase (quinone)

Normal Function

The DHODH gene provides instructions for making an enzyme called dihydroorotate dehydrogenase. This enzyme is involved in producing pyrimidines, which are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. Dihydroorotate dehydrogenase functions within mitochondria, the energy-producing centers within cells. Specifically, this enzyme converts a molecule called dihydroorotate to a molecule called orotic acid. In subsequent steps, other enzymes modify orotic acid to produce pyrimidines.

Health Conditions Related to Genetic Changes

Miller syndrome

At least 11 mutations in the DHODH gene have been found to cause Miller syndrome. Most of these mutations change single protein building blocks (amino acids) in dihydroorotate dehydrogenase, which likely impairs the enzyme's ability to function normally. It is unclear exactly how DHODH gene mutations lead to the signs and symptoms of Miller syndrome.

More About This Health Condition

Other Names for This Gene

  • DHOdehase
  • dihydroorotate dehydrogenase
  • dihydroorotate dehydrogenase, mitochondrial
  • dihydroorotate dehydrogenase, mitochondrial precursor
  • dihydroorotate oxidase
  • human complement of yeast URA1
  • URA1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases


  • Biesecker LG. Exome sequencing makes medical genomics a reality. Nat Genet. 2010 Jan;42(1):13-4. doi: 10.1038/ng0110-13. Citation on PubMed
  • Brosnan ME, Brosnan JT. Orotic acid excretion and arginine metabolism. J Nutr. 2007 Jun;137(6 Suppl 2):1656S-1661S. doi: 10.1093/jn/137.6.1656S. Citation on PubMed
  • Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13. Citation on PubMed or Free article on PubMed Central
  • Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10. Citation on PubMed or Free article on PubMed Central

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.