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Genetics Home Reference: your guide to understanding genetic conditions
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KDM6A

Reviewed October 2013

What is the official name of the KDM6A gene?

The official name of this gene is “lysine (K)-specific demethylase 6A.”

KDM6A is the gene's official symbol. The KDM6A gene is also known by other names, listed below.

What is the normal function of the KDM6A gene?

The KDM6A gene provides instructions for making an enzyme called lysine-specific demethylase 6A that is found in many organs and tissues of the body. Lysine-specific demethylase 6A functions as a histone demethylase. Histone demethylases are enzymes that modify proteins called histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape. By removing a molecule called a methyl group from histones (a process called demethylation), histone demethylases control (regulate) the activity of certain genes. Lysine-specific demethylase 6A appears to regulate certain genes that are important for development.

Lysine-specific demethylase 6A is also believed to act as a tumor suppressor, which means it normally helps prevent cells from growing and dividing in an uncontrolled way.

Does the KDM6A gene share characteristics with other genes?

The KDM6A gene belongs to a family of genes called chromatin-modifying enzymes (chromatin-modifying enzymes). It also belongs to a family of genes called TTC (tetratricopeptide (TTC) repeat domain containing).

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 KDM6A gene related to health conditions?

Kabuki syndrome - caused by mutations in the KDM6A gene

At least five mutations in the KDM6A gene have been identified in people with Kabuki syndrome, a disorder characterized by distinctive facial features, intellectual disability, and abnormalities affecting other parts of the body.

The KDM6A gene mutations associated with Kabuki syndrome delete genetic material in the KDM6A gene sequence or result in a premature stop signal that leads to an abnormally short lysine-specific demethylase 6A enzyme. As a result of these mutations, the enzyme is nonfunctional. A lack of functional lysine-specific demethylase 6A enzyme disrupts its role in histone demethylation and impairs proper regulation of certain genes in many of the body's organs and tissues, resulting in the abnormalities of development and function characteristic of Kabuki syndrome.

Although lysine-specific demethylase 6A is believed to act as a tumor suppressor, a loss of this enzyme's function does not seem to increase cancer risk in people with Kabuki syndrome.

cancers - associated with the KDM6A gene

Some KDM6A gene mutations are not inherited but occur during a person's lifetime. Such mutations, which are called somatic mutations, are present only in certain cells. Somatic mutations in the KDM6A gene have been identified in certain cancers. These include cancers of the breast, esophagus, colon, kidney, and brain, and cancers of the blood-forming cells called myeloid leukemia and multiple myeloma. Most of these mutations result in an abnormally short, nonfunctional lysine-specific demethylase 6A enzyme that cannot perform its role as a tumor suppressor, resulting in the development of cancer.

Where is the KDM6A gene located?

Cytogenetic Location: Xp11.2

Molecular Location on the X chromosome: base pairs 44,873,174 to 45,112,778

The KDM6A gene is located on the short (p) arm of the X chromosome at position 11.2.

The KDM6A gene is located on the short (p) arm of the X chromosome at position 11.2.

More precisely, the KDM6A gene is located from base pair 44,873,174 to base pair 45,112,778 on the X chromosome.

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 KDM6A?

You and your healthcare professional may find the following resources about KDM6A 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 KDM6A gene or gene products?

  • bA386N14.2
  • bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX))
  • histone demethylase UTX
  • KABUK2
  • KDM6A_HUMAN
  • lysine-specific demethylase 6A
  • ubiquitously transcribed tetratricopeptide repeat protein X-linked
  • ubiquitously-transcribed TPR gene on the X chromosome
  • ubiquitously-transcribed TPR protein on the X chromosome
  • UTX

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 KDM6A?

cancer ; chromosome ; colon ; disability ; DNA ; enzyme ; esophagus ; gene ; histone ; inherited ; kidney ; leukemia ; lysine ; methyl ; molecule ; multiple myeloma ; myeloid ; myeloma ; protein ; syndrome ; tumor

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

References

  • Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet. 2012 Jan 13;90(1):119-24. doi: 10.1016/j.ajhg.2011.11.021. Epub 2011 Dec 22. (http://www.ncbi.nlm.nih.gov/pubmed/22197486?dopt=Abstract)
  • OMIM: LYSINE-SPECIFIC DEMETHYLASE 6A (http://omim.org/entry/300128)
  • Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A. 2013 Sep;161(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2. (http://www.ncbi.nlm.nih.gov/pubmed/23913813?dopt=Abstract)
  • Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, Niikawa N, Matsumoto N. KDM6A point mutations cause Kabuki syndrome. Hum Mutat. 2013 Jan;34(1):108-10. doi: 10.1002/humu.22229. Epub 2012 Oct 17. (http://www.ncbi.nlm.nih.gov/pubmed/23076834?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7403)

 

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: October 2013
Published: September 15, 2014