endothelin 3
Última actualización 10 de abril de 2023
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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
Otros nombres
EDN3_HUMAN
endothelin 3 precursor
ET3
HSCR4
PPET3
Preproendothelin-3
RP4-614C15.1
WS4B
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Lecturas adicionales y referencias
- 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.
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10 de abril de 2023 | Última versión
1 Aug 2022 | Publicado originalmente
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