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Genetics Home Reference: your guide to understanding genetic conditions
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D2HGDH

Reviewed November 2007

What is the official name of the D2HGDH gene?

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.

What is the normal function of the D2HGDH gene?

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.

How are changes in the D2HGDH gene related to health conditions?

2-hydroxyglutaric aciduria - caused by mutations in the D2HGDH gene

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.

Where is the D2HGDH gene located?

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.

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.

Where can I find additional information about D2HGDH?

You and your healthcare professional may find the following resources about D2HGDH helpful.

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for D2HGDH (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=728294%5Bgeneid%5D)

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/pubmed?term=((D2HGD)%20OR%20(D-2-hydroxyglutarate%20dehydrogenase%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/609186)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_D2HGDH.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/728294)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=728294)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=28358)

What other names do people use for the D2HGDH gene or gene products?

  • D2HDH_HUMAN
  • D2HGD
  • FLJ42195
  • 2-hydroxypentanedioic acid
  • MGC25181

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 D2HGDH?

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).

References

  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/728294)
  • OMIM: D-2-HYDROXYGLUTARATE DEHYDROGENASE (http://omim.org/entry/609186)
  • Struys EA, Korman SH, Salomons GS, Darmin PS, Achouri Y, van Schaftingen E, Verhoeven NM, Jakobs C. Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. Ann Neurol. 2005 Oct;58(4):626-30. (http://www.ncbi.nlm.nih.gov/pubmed/16037974?dopt=Abstract)
  • Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet. 2005 Feb;76(2):358-60. Epub 2004 Dec 17. (http://www.ncbi.nlm.nih.gov/pubmed/15609246?dopt=Abstract)
  • Struys EA. D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect. J Inherit Metab Dis. 2006 Feb;29(1):21-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16601864?dopt=Abstract)

 

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: May 13, 2013