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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.
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.
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.
Cytogenetic Location: 16q22
Molecular Location on chromosome 16: base pairs 72,008,743 to 72,025,416
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 72,008,743 to base pair 72,025,416 on chromosome 16.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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 (http://ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.