endothelin 3
Dernière mise à jour 10 Apr 2023
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
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 (proliferation).
Normal function
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 (proliferation).
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 for the production of specialized cells called melanocytes. Melanocytes produce melanin, a pigment that contributes to skin, hair, and eye colour. Melanin is also involved in the normal function of the inner ear.
Conditions referring to this gene or chromosome
Other names
EDN3_HUMAN
endothelin 3 precursor
ET3
HSCR4
PPET3
Preproendothelin-3
RP4-614C15.1
WS4B
Related patient information and medicines
Patient information leaflet
Mal des montagnes
It is more common in places where visitors. It is also more common in places where it is possible to fly to a high altitude to start with, before climbing further. This is the case, for example, with the Everest Base Camp trek in Nepal, where the trek often begins by flying to Lukla at an altitude of 2860 metres (9,000 feet). Up to half of.
Patient information leaflet
Douleur mammaire
La plupart women develop breast pain (mastalgia) at some stage in life. In most cases the pain develops in the days just before a period. In some cases the pain is not related to periods. Discuss this with your doctor. Medicines to block hormones. Medicines such as danazol , tamoxifen et goserelin injections peuvent ease pain in most cases. These medicines.
Patient information leaflet
maladie de Lyme
maladie de Lyme est an infection caused by being bitten by an infected tick. The first and most common symptom is a rash that spreads out from the site of the tick bite. Left untreated, the germs (bacteria) can spread to other areas of the body. In some cases this can cause serious symptoms - often months after the initial tick bite. A course of.
Patient information leaflet
Hémorroïdes
Piles (haemorrhoids) sont swollen lumps in or around the bottom that cause discomfort, itching, or bleeding. They often get better on their own but may need treatment to remove them. What are piles. Piles are swollen veins that can cause lumps inside and around your bottom (anus). They are very common, especially with age, pregnancy, or.
Patient information leaflet
Eczéma variqueux
Who. Varicose eczema mainly affects older people. As many as one in five people over the age of 70 develop varicose eczema. People most at risk are those who have varicose veins , who have had varicose vein surgery, or who have had a thrombosis in a deep leg vein ( deep vein thrombosis - a DVT ). Varicose eczema is more common in women. What.
Patient information leaflet
Méthodes de contraception
They all have pros et cons. Different methods will be right for different couples, or right for you. This leaflet gives a brief summary of the methods of contraception. A more detailed leaflet is available for each of the methods described. How effective is contraception. All the methods of contraception listed below are effective. However, no.
Lectures complémentaires et références
- endothelin 3; MedlinePlus, National Library of Medicine.
- Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE, Yanagisawa M. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell. 1994 Dec 30;79(7):1277-85. doi: 10.1016/0092-8674(94)90018-3.
- Duan XL, Zhang XS, Li GW. Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung's disease. World J Gastroenterol. 2003 Dec;9(12):2839-42. doi: 10.3748/wjg.v9.i12.2839.
- Gazquez E, Watanabe Y, Broders-Bondon F, Paul-Gilloteaux P, Heysch J, Baral V, Bondurand N, Dufour S. Endothelin-3 stimulates cell adhesion and cooperates with beta1-integrins during enteric nervous system ontogenesis. Sci Rep. 2016 Dec 1;6:37877. doi: 10.1038/srep37877.
- Heuckeroth RO. Finding your way to the end: a tale of GDNF and endothelin-3. Neuron. 2003 Dec 4;40(5):871-3. doi: 10.1016/s0896-6273(03)00763-3. No abstract available.
- Kapur RP, Gershon MD, Milla PJ, Pachnis V. The influence of Hox genes and three intercellular signalling pathways on enteric neuromuscular development. Neurogastroenterol Motil. 2004 Apr;16 Suppl 1:8-13. doi: 10.1111/j.1743-3150.2004.00467.x.
- Pingault V, Bondurand N, Lemort N, Sancandi M, Ceccherini I, Hugot JP, Jouk PS, Goossens M. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? J Med Genet. 2001 Mar;38(3):205-9. doi: 10.1136/jmg.38.3.205. No abstract available.
- Sanchez-Mejias A, Fernandez RM, Lopez-Alonso M, Antinolo G, Borrego S. New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. Genet Med. 2010 Jan;12(1):39-43. doi: 10.1097/GIM.0b013e3181c371b0.
- Shin MK, Levorse JM, Ingram RS, Tilghman SM. The temporal requirement for endothelin receptor-B signalling during neural crest development. Nature. 1999 Dec 2;402(6761):496-501. doi: 10.1038/990040.
- Svensson PJ, Von Tell D, Molander ML, Anvret M, Nordenskjold A. A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease. Pediatr Res. 1999 May;45(5 Pt 1):714-7. doi: 10.1203/00006450-199905010-00018.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.