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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.
Read more about gene names and symbols on the About page.
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? in the Handbook.
How are changes in the KDM6A gene related to health conditions?
Where is the KDM6A gene located?
Cytogenetic Location: Xp11.2
Molecular Location on the X chromosome: base pairs 44,873,175 to 45,112,779
(Homo sapiens Annotation Release 107, GRCh38.p2) (
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 44,873,175 to base pair 45,112,779 on the X chromosome.
See How do geneticists indicate the location of a gene? 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?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
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.
See also Understanding Medical Terminology.
References (5 links)
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.