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L2HGDH

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.

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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 (http://www.genetests.org/query?testid=262221)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=((L2HGDH[TIAB])+OR+(L-2-hydroxyglutarate+dehydrogenase[TIAB]))+OR+((2-hydroxyglutarate+dehydrogenase[TIAB])+OR+(duranin[TIAB]))+AND+((Genes[MH])+OR+(Genetic+Phenomena[MH]))+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=3600+Days)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609584)
  • Research Resources - Tools for researchers
    • Entrez Gene (http://view.ncbi.nlm.nih.gov/gene/79944)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp?L2HGDH)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=20499)

What other names do people use for the L2HGDH gene or gene products?

  • alpha-hydroxyglutarate oxidoreductase
  • alpha-ketoglutarate reductase
  • C14orf160
  • duranin
  • FLJ12618
  • 2-hydroxyglutarate dehydrogenase
  • L2HDH_HUMAN
  • L-alpha-hydroxyglutarate dehydrogenase

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding L2HGDH?

acids ; aciduria ; amino acid ; cell ; compound ; dehydrogenase ; enzyme ; gene ; mutation ; oxidoreductase ; protein ; reductases ; sign ; symptom ; testes ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Goffette SM, Duprez TP, Nassogne MC, Vincent MF, Jakobs C, Sindic CJ. L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters. Eur J Neurol. 2006 May;13(5):499-504. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16722976)
  • OMIM (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609584)
  • 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. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16005139)
  • Topcu M, Aydin OF, Yalcinkaya C, Haliloglu G, Aysun S, Anlar B, Topaloglu H, Turanli G, Yalnizoglu D, Kesimer M, Coskun T. L-2-hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr. 2005 Jan-Mar;47(1):1-7. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15884621)
  • Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal 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. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15385440)
  • Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorao R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C. Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mutat. 2005 Oct;26(4):395-6. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16134148)

 

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.

 
Reviewed: November 2007
Published: January 30, 2009