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Genetics Home Reference: your guide to understanding genetic conditions
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EHMT1

Reviewed February 2011

What is the official name of the EHMT1 gene?

The official name of this gene is “euchromatic histone-lysine N-methyltransferase 1.”

EHMT1 is the gene's official symbol. The EHMT1 gene is also known by other names, listed below.

What is the normal function of the EHMT1 gene?

The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. Histone methyltransferases are enzymes that modify proteins called histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones, histone methyltransferases can turn off (suppress) the activity of certain genes, which is essential for normal development and function.

Does the EHMT1 gene share characteristics with other genes?

The EHMT1 gene belongs to a family of genes called ANKRD (ankyrin repeat domain containing). It also belongs to a family of genes called chromatin-modifying enzymes (chromatin-modifying enzymes).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the EHMT1 gene related to health conditions?

Kleefstra syndrome - caused by mutations in the EHMT1 gene

Kleefstra syndrome, a disorder affecting many parts of the body, is caused by the loss of the EHMT1 gene or by mutations that disable its function.

Most people with Kleefstra syndrome are missing a sequence of about 1 million DNA building blocks (base pairs) on one copy of chromosome 9 in each cell. The deletion occurs near the end of the long (q) arm of the chromosome at a location designated q34.3, a region containing the EHMT1 gene. Some affected individuals have shorter or longer deletions in the same region.

The loss of the EHMT1 gene from one copy of chromosome 9 in each cell is believed to be responsible for the characteristic features of Kleefstra syndrome in people with the 9q34.3 deletion. However, the loss of other genes in the same region may lead to additional health problems in some affected individuals.

About 25 percent of individuals with Kleefstra syndrome do not have a deletion of genetic material from chromosome 9; instead, these individuals have mutations in the EHMT1 gene. Some of these mutations change single protein building blocks (amino acids) in euchromatic histone methyltransferase 1. Others create a premature stop signal in the instructions for making the enzyme or alter the way the gene's instructions are pieced together to produce the enzyme. These changes generally result in an enzyme that is unstable and decays rapidly, or that is disabled and cannot function properly.

Either a deletion or a mutation affecting the EHMT1 gene results in a lack of functional euchromatic histone methyltransferase 1 enzyme. A lack of this enzyme impairs proper control of the activity of certain genes in many of the body's organs and tissues, resulting in the abnormalities of development and function characteristic of Kleefstra syndrome.

Where is the EHMT1 gene located?

Cytogenetic Location: 9q34.3

Molecular Location on chromosome 9: base pairs 137,618,991 to 137,836,126

The EHMT1 gene is located on the long (q) arm of chromosome 9 at position 34.3.

The EHMT1 gene is located on the long (q) arm of chromosome 9 at position 34.3.

More precisely, the EHMT1 gene is located from base pair 137,618,991 to base pair 137,836,126 on chromosome 9.

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 EHMT1?

You and your healthcare professional may find the following resources about EHMT1 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 EHMT1 gene or gene products?

  • bA188C12.1
  • DEL9q34
  • DKFZp667M072
  • EHMT1_HUMAN
  • EUHMTASE1
  • Eu-HMTase1
  • FLJ12879
  • FP13812
  • G9a like protein
  • G9a-like protein 1
  • GLP
  • GLP1
  • H3-K9-HMTase 5
  • histone H3-K9 methyltransferase 5
  • histone-lysine N-methyltransferase, H3 lysine-9 specific 5
  • KIAA1876
  • KMT1D
  • lysine N-methyltransferase 1D
  • RP11-188C12.1

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 EHMT1?

acids ; cell ; chromosome ; deletion ; DNA ; enzyme ; gene ; histone ; lysine ; methyl ; methyltransferase ; molecule ; mutation ; protein ; syndrome

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

References

  • Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Geneviève D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet. 2006 Aug;79(2):370-7. Epub 2006 Jun 13. (http://www.ncbi.nlm.nih.gov/pubmed/16826528?dopt=Abstract)
  • Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet. 2005 Apr;42(4):299-306. (http://www.ncbi.nlm.nih.gov/pubmed/15805155?dopt=Abstract)
  • Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet. 2009 Sep;46(9):598-606. doi: 10.1136/jmg.2008.062950. Epub 2009 Mar 4. (http://www.ncbi.nlm.nih.gov/pubmed/19264732?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/79813)
  • OMIM: EUCHROMATIC HISTONE METHYLTRANSFERASE 1 (http://omim.org/entry/607001)
  • Stewart DR, Kleefstra T. The chromosome 9q subtelomere deletion syndrome. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):383-92. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17910072?dopt=Abstract)
  • Willemsen MH, Beunders G, Callaghan M, de Leeuw N, Nillesen WM, Yntema HG, van Hagen JM, Nieuwint AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. Clin Genet. 2011 Jul;80(1):31-8. doi: 10.1111/j.1399-0004.2010.01607.x. Epub 2011 Jan 10. (http://www.ncbi.nlm.nih.gov/pubmed/21204793?dopt=Abstract)
  • Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR. Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet. 2009 Jun 1;18(11):1924-36. doi: 10.1093/hmg/ddp114. Epub 2009 Mar 17. (http://www.ncbi.nlm.nih.gov/pubmed/19293338?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: February 2011
Published: July 7, 2014