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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. Little is known about this enzyme. Researchers believe it 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 alpha-ketoglutarate. A series of additional enzymes further process alpha-ketoglutarate to a form of energy used by cells.
Researchers have identified several D2HGDH mutations that cause D-2-hydroxyglutaric aciduria. Some of these mutations change single protein building blocks (amino acids) in the D-2-hydroxyglutarate dehydrogenase enzyme. Other mutations delete one or more amino acids from this enzyme. These changes probably impair the normal function of D-2-hydroxyglutarate dehydrogenase by affecting how the enzyme folds into a 3-dimensional shape. With a shortage of functional enzyme, D-2-hydroxyglutarate does not break down and accumulates in cells. Researchers believe that this accumulation is toxic and damages brain cells, leading to the signs and symptoms of D-2-hydroxyglutaric aciduria.
Cytogenetic Location: 2q37.3
Molecular Location on chromosome 2: base pairs 242,674,029 to 242,708,230
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 242,674,029 to base pair 242,708,230 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 ; protein ; toxic
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.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.