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Reviewed August 2012
What is the official name of the EDN3 gene?
The official name of this gene is “endothelin 3.”
EDN3 is the gene's official symbol. The EDN3 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 EDN3 gene?
The EDN3 gene provides instructions for making a protein called endothelin 3. Proteins in the endothelin family are produced in various cells and tissues, where they are involved in the development and function of blood vessels, the production of certain hormones, and the stimulation of cell growth and division.
Endothelin 3 functions by interacting with another protein, endothelin receptor type B (produced from the EDNRB gene), on the surface of cells. During early development before birth, endothelin 3 and endothelin receptor type B together play an important role in neural crest cells. These cells migrate from the developing spinal cord to specific regions in the embryo, where they give rise to many different types of cells. In particular, endothelin 3 and its receptor are essential for the formation of nerves in the intestine (enteric nerves) and melanocytes. Melanocytes are cells that produce melanin, a pigment that contributes to skin, hair, and eye color. Melanin is also involved in the normal function of the inner ear.
How are changes in the EDN3 gene related to health conditions?
Where is the EDN3 gene located?
Cytogenetic Location: 20q13.2-q13.3
Molecular Location on chromosome 20: base pairs 57,875,498 to 57,901,046
The EDN3 gene is located on the long (q) arm of chromosome 20 between positions 13.2 and 13.3.
More precisely, the EDN3 gene is located from base pair 57,875,498 to base pair 57,901,046 on chromosome 20.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about EDN3?
You and your healthcare professional may find the following resources about EDN3 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 EDN3 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 EDN3?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.