|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “zinc finger E-box binding homeobox 2.”
ZEB2 is the gene's official symbol. The ZEB2 gene is also known by other names, listed below.
The ZEB2 gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers have found that the ZEB2 protein is involved in chemical signaling pathways that regulate early growth and development.
The ZEB2 protein is active in many types of cells before birth. It appears to be particularly important for the development of the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Neural crest cells migrate to form portions of the nervous system, glands that produce hormones (endocrine glands), pigment cells, smooth muscle and other tissues in the heart, and many tissues in the face and skull.
The ZEB2 protein is also active in cells that are not derived from the neural crest. For example, this protein is involved in the development of the digestive tract, skeletal muscles, kidneys, and other organs.
The ZEB2 gene belongs to a family of genes called homeobox (homeoboxes). It also belongs to a family of genes called ZNF (zinc fingers, C2H2-type).
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.
More than 100 mutations in the ZEB2 gene have been identified in people with Mowat-Wilson syndrome. These mutations almost always inactivate one copy of the ZEB2 gene. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein.
A shortage of the ZEB2 protein disrupts the formation of many organs and tissues before birth. The abnormal development of neural crest-derived structures, such as the nervous system and facial features, underlie many of the signs and symptoms of Mowat-Wilson syndrome. The role of the ZEB2 protein in the development of nerves that control the digestive tract may help explain why many people with this condition also have Hirschsprung disease, an intestinal disorder that causes severe constipation, intestinal blockage, and enlargement of the colon.
Cytogenetic Location: 2q22.3
Molecular Location on chromosome 2: base pairs 144,384,374 to 144,520,392
The ZEB2 gene is located on the long (q) arm of chromosome 2 at position 22.3.
More precisely, the ZEB2 gene is located from base pair 144,384,374 to base pair 144,520,392 on chromosome 2.
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 ZEB2 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.
colon ; constipation ; digestive ; DNA ; embryo ; enteric ; gene ; haploinsufficiency ; homeobox ; nervous system ; neural crest ; pigment ; protein ; syndrome ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/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.