|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “enhancer of zeste 2 polycomb repressive complex 2 subunit.”
EZH2 is the gene's official symbol. The EZH2 gene is also known by other names, listed below.
The EZH2 gene provides instructions for making a type of enzyme called a histone methyltransferase. Histone methyltransferases modify proteins called histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (methylation), histone methyltransferases can turn off (suppress) the activity of certain genes, an essential process in normal development. Specifically, the EZH2 enzyme forms part of a protein group called the polycomb repressive complex-2. By turning off particular genes, this complex is involved in the process that determines the type of cell an immature cell will ultimately become (cell fate determination).
The EZH2 gene 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.
At least 20 EZH2 gene mutations have been identified in people with Weaver syndrome. Signs and symptoms of this condition include bone overgrowth, a distinctive facial appearance, and joint problems. People with Weaver syndrome have an increased risk of developing cancer, but the small number of affected individuals makes the exact risk difficult to determine. EZH2 gene mutations may disrupt methylation and impair regulation of certain genes in many of the body's organs and tissues, resulting in the abnormalities characteristic of Weaver syndrome.
Changes in the EZH2 gene have been associated with various types of cancers. Mutations of this gene have been identified in cancers of blood-forming tissues (lymphomas and leukemias). These mutations are described as "gain-of-function" because they appear to enhance the activity of the EZH2 protein or give the protein a new, atypical function. In addition, excessive activity (overexpression) of the EZH2 gene has been identified in cancerous tumors of the prostate, breast, and other parts of the body. Changes involving the EZH2 gene likely impair normal control of cell division (proliferation), allowing cells to grow and divide too fast or in an uncontrolled way and leading to the development of cancer.
Cytogenetic Location: 7q35-q36
Molecular Location on chromosome 7: base pairs 148,807,371 to 148,884,348
The EZH2 gene is located on the long (q) arm of chromosome 7 between positions 35 and 36.
More precisely, the EZH2 gene is located from base pair 148,807,371 to base pair 148,884,348 on chromosome 7.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about EZH2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
atypical ; cancer ; cell ; cell division ; DNA ; enhancer ; enzyme ; gene ; histone ; joint ; lysine ; methyl ; methylation ; methyltransferase ; molecule ; proliferation ; prostate ; protein ; subunit ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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.