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The official name of this gene is “D-2-hydroxyglutarate dehydrogenase.”
D2HGDH is the gene's official symbol. The D2HGDH gene is also known by other names, listed below.
The D2HGDH gene provides instructions for making an enzyme called D-2-hydroxyglutarate dehydrogenase. This enzyme is found in mitochondria, which are the energy-producing centers within cells. Within mitochondria, the enzyme participates in reactions that produce energy for cell activities. Specifically, D-2-hydroxyglutarate dehydrogenase converts a compound called D-2-hydroxyglutarate to another compound called 2-ketoglutarate. A series of additional enzymes further process 2-ketoglutarate to produce energy.
Researchers have identified more than 30 D2HGDH gene mutations that cause a type of 2-hydroxyglutaric aciduria known as D-2-hydroxyglutaric aciduria (D-2-HGA) type I. This condition has a variety of signs and symptoms that result primarily from progressive damage to the brain beginning early in life.
Some D2HGDH gene mutations change single protein building blocks (amino acids) in the D-2-hydroxyglutarate dehydrogenase enzyme, which likely impairs its function. Other mutations lead to the production of an abnormally short, nonfunctional version of the enzyme. With a shortage of functional enzyme, D-2-hydroxyglutarate is not broken down but instead builds up in cells. At high levels, this compound can damage cells and lead to cell death. Brain cells appear to be the most vulnerable to the toxic effects of this compound, which may explain why the signs and symptoms of D-2-HGA type I primarily involve the brain.
Cytogenetic Location: 2q37.3
Molecular Location on chromosome 2: base pairs 241,734,578 to 241,768,815
The D2HGDH gene is located on the long (q) arm of chromosome 2 at position 37.3.
More precisely, the D2HGDH gene is located from base pair 241,734,578 to base pair 241,768,815 on chromosome 2.
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 D2HGDH 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 ; aciduria ; cell ; compound ; dehydrogenase ; enzyme ; gene ; mitochondria ; protein ; toxic
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.