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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


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.

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?

2-hydroxyglutaric aciduria - caused by mutations in the L2HGDH gene

Researchers have identified more than 70 mutations in the L2HGDH gene that cause a type of 2-hydroxyglutaric aciduria known as L-2-hydroxyglutaric aciduria (L-2-HGA). This condition has a variety of signs and symptoms that result from progressive damage to the brain beginning early in life.

Some L2HGDH gene mutations change single protein building blocks (amino acids) in the L-2-hydroxyglutarate dehydrogenase enzyme, which likely impairs its function. Other mutations insert or delete genetic material in the gene or lead to the production of an abnormally short, nonfunctional version of the enzyme. With a shortage of functional enzyme, L-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 L-2-HGA primarily involve the brain.

Where is the L2HGDH gene located?

Cytogenetic Location: 14q21.3

Molecular Location on chromosome 14: base pairs 50,242,434 to 50,312,389

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The L2HGDH gene is located on the long (q) arm of chromosome 14 at position 21.3.

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 50,242,434 to base pair 50,312,389 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?

  • 2-hydroxyglutarate dehydrogenase
  • alpha-hydroxyglutarate oxidoreductase
  • alpha-ketoglutarate reductase
  • C14orf160
  • duranin
  • FLJ12618
  • L-alpha-hydroxyglutarate dehydrogenase

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding L2HGDH?

acids ; aciduria ; cell ; compound ; dehydrogenase ; enzyme ; gene ; leukodystrophy ; mitochondria ; oxidoreductase ; protein ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis. 2012 Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5. Epub 2012 Mar 6. Review. (
  • NCBI Gene (
  • Rzem R, Van Schaftingen E, Veiga-da-Cunha M. The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Biochimie. 2006 Jan;88(1):113-6. Epub 2005 Jun 23. (
  • Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Review. (
  • Topçu M, Aydin OF, Yalçinkaya C, Haliloğlu G, Aysun S, Anlar B, Topaloğlu H, Turanli G, Yalnizoğlu D, Kesimer M, Coşkun T. L-2-hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr. 2005 Jan-Mar;47(1):1-7. (
  • Topçu M, Jobard F, Halliez S, Coskun T, Yalçinkayal C, Gerceker FO, Wanders RJ, Prud'homme JF, Lathrop M, Ozguc M, Fischer J. L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet. 2004 Nov 15;13(22):2803-11. Epub 2004 Sep 22. (
  • Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L. Identification of novel L2HGDH gene mutations and update of the pathological spectrum. J Hum Genet. 2010 Jan;55(1):55-8. doi: 10.1038/jhg.2009.110. Epub 2009 Nov 13. (


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.

Reviewed: August 2013
Published: February 8, 2016