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Reviewed August 2013
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.
Read more about gene names and symbols on the About page.
What is the normal function of the L2HGDH gene?
The L2HGDH gene provides instructions for making an enzyme called L-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, L-2-hydroxyglutarate dehydrogenase converts a compound called L-2-hydroxyglutarate to another compound called 2-ketoglutarate. A series of additional enzymes further process 2-ketoglutarate to produce energy.
How are changes in the L2HGDH gene related to health conditions?
Where is the L2HGDH gene located?
Cytogenetic Location: 14q21.3
Molecular Location on chromosome 14: base pairs 50,242,433 to 50,312,228
The L2HGDH gene is located on the long (q) arm of chromosome 14 at position 21.3.
More precisely, the L2HGDH gene is located from base pair 50,242,433 to base pair 50,312,228 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.
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?
See How are genetic conditions and genes named? in the Handbook.
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?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 links)
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.