Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed August 2010

What is the official name of the DHODH gene?

The official name of this gene is “dihydroorotate dehydrogenase (quinone).”

DHODH is the gene's official symbol. The DHODH gene is also known by other names, listed below.

What is the normal function of the DHODH gene?

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.

How are changes in the DHODH gene related to health conditions?

Miller syndrome - caused by mutations in the DHODH gene

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.

Where is the DHODH gene located?

Cytogenetic Location: 16q22

Molecular Location on chromosome 16: base pairs 72,008,744 to 72,025,417

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The DHODH gene is located on the long (q) arm of chromosome 16 at position 22.

The DHODH gene is located on the long (q) arm of chromosome 16 at position 22.

More precisely, the DHODH gene is located from base pair 72,008,744 to base pair 72,025,417 on chromosome 16.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about DHODH?

You and your healthcare professional may find the following resources about DHODH helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DHODH gene or gene products?

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

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding DHODH?

acids ; ATP ; cell ; dehydrogenase ; DNA ; enzyme ; gene ; GTP ; mitochondria ; molecule ; oxidase ; precursor ; protein ; pyrimidines ; RNA ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Biesecker LG. Exome sequencing makes medical genomics a reality. Nat Genet. 2010 Jan;42(1):13-4. doi: 10.1038/ng0110-13. (
  • Brosnan ME, Brosnan JT. Orotic acid excretion and arginine metabolism. J Nutr. 2007 Jun;137(6 Suppl 2):1656S-1661S. Review. (
  • NCBI Gene (
  • 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. (
  • 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. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: August 2010
Published: February 8, 2016