The EDN1 gene provides instructions for making a protein called endothelin-1. 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 cell growth and division (proliferation).
Endothelin-1 is active in many tissues, including the blood vessels, the nervous system, and the kidneys. Endothelin-1 helps transmit signals from the outside of the cell to the inside of the cell. In this way, endothelin-1 can regulate many of the body’s functions. As an example, endothelin-1 helps control blood pressure by causing blood vessels to narrow (constrict) and by helping the kidneys regulate the removal of sodium.
Endothelin-1 is part of a signaling pathway that helps cells called neural crest cells mature (differentiate) in the developing embryo. Neural crest cells migrate to different parts of the embryo and ultimately develop into many different types of cells. Endothelian-1 helps regulate the differentiation of the neural crest cells that form the first and second pharyngeal arches, which eventually become the bones and tissues of the head and face.
Other Names
ET1; PPET1; preproendothelin 1; QME
Related Genetics Topics
Identifiers
- NCBI Gene: 1906
- OMIM: 131240
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
