Reviewed November 2007
What is the official name of the L2HGDH gene?
The official name of this gene is “L-2-hydroxyglutarate dehydrogenase.”
L2HGDH is the gene's official symbol. The L2HGDH gene is also known by other names, listed below.
What is the normal function of the L2HGDH gene?
The L2HGDH gene provides instructions for making an enzyme called L-2-hydroxyglutarate dehydrogenase. This gene is active in cells throughout the body, particularly cells in the brain, muscles, and testes. Little is known about the L-2-hydroxyglutarate dehydrogenase enzyme. Researchers believe it participates in reactions that produce energy for cell activities. Specifically, L-2-hydroxyglutarate dehydrogenase converts a compound called L-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.
How are changes in the L2HGDH gene related to health conditions?
2-hydroxyglutaric aciduria - caused by mutations in the L2HGDH gene
Researchers have identified several L2HGDH mutations that cause L-2-hydroxyglutaric aciduria. Some of these mutations change single protein building blocks (amino acids) in the L-2-hydroxyglutarate dehydrogenase enzyme. Other mutations delete one or more amino acids from this enzyme. These changes probably impair the normal function of L-2-hydroxyglutarate dehydrogenase by affecting how the enzyme folds into a 3-dimensional shape. With a shortage of functional enzyme, L-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 L-2-hydroxyglutaric aciduria.
Where is the L2HGDH gene located?
Cytogenetic Location: 14q22.1
Molecular Location on chromosome 14: base pairs 49,782,932 to 49,848,696
The L2HGDH gene is located on the long (q) arm of chromosome 14 at position 22.1.
More precisely, the L2HGDH gene is located from base pair 49,782,932 to base pair 49,848,696 on chromosome 14.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about L2HGDH?
You and your healthcare professional may find the following resources about L2HGDH helpful.
- Gene Tests - DNA tests ordered by healthcare professionals
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the L2HGDH gene or gene products?
- alpha-hydroxyglutarate oxidoreductase
- alpha-ketoglutarate reductase
- 2-hydroxyglutarate dehydrogenase
- L-alpha-hydroxyglutarate dehydrogenase
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding L2HGDH?
amino acid ;
You may find definitions for these and many other terms in the Genetics Home Reference
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
See How can I find a genetics professional in my area? in the Handbook.