endothelin receptor type B
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The EDNRB gene provides instructions for making a protein called endothelin receptor type B. This protein is located on the surface of cells and functions as a signaling mechanism, transmitting information from outside the cell to inside the cell. The receptor interacts with proteins called endothelins to regulate several critical biological processes, including the development and function of blood vessels, the production of certain hormones, and the stimulation of cell growth and division (proliferation).
Normal function
The EDNRB gene provides instructions for making a protein called endothelin receptor type B. This protein is located on the surface of cells and functions as a signaling mechanism, transmitting information from outside the cell to inside the cell. The receptor interacts with proteins called endothelins to regulate several critical biological processes, including the development and function of blood vessels, the production of certain hormones, and the stimulation of cell growth and division (proliferation).
Endothelin 3 (produced from the EDN3 gene) is one of the proteins that interacts with endothelin receptor type B. During early development before birth (embryonic development), 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 endothelin receptor type B 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
Altri nomi
ABCDS
EDNRB_HUMAN
endothelin receptor, non-selective type
ETB
ETBR
ETRB
HSCR
HSCR2
RP11-318G21.1
WS4A
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Ulteriori letture e riferimenti
- endothelin receptor type B; MedlinePlus, National Library of Medicine.
- Amiel J, Attie T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, Simeoni J, Flori E, Nihoul-Fekete C, Munnich A, Lyonnet S. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet. 1996 Mar;5(3):355-7. doi: 10.1093/hmg/5.3.355.
- Barlow A, de Graaff E, Pachnis V. Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET. Neuron. 2003 Dec 4;40(5):905-16. doi: 10.1016/s0896-6273(03)00730-x.
- 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.
- 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.
- Pla P, Larue L. Involvement of endothelin receptors in normal and pathological development of neural crest cells. Int J Dev Biol. 2003 Jun;47(5):315-25.
- 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.
- Soufir N, Meziani R, Lacapere JJ, Bertrand G, Fumeron F, Bourillon A, Gerard B, Descamps V, Crickx B, Ollivaud L, Archimbaud A, Lebbe C, Basset-Seguin N, Saiag P, Grandchamp B; Investigators of the Melan-Cohort. Association between endothelin receptor B nonsynonymous variants and melanoma risk. J Natl Cancer Inst. 2005 Sep 7;97(17):1297-301. doi: 10.1093/jnci/dji253.
- Spica T, Fargnoli MC, Hetet G, Bertrand G, Formicone F, Descamps V, Wolkenstein P, Dupin N, Lebbe C, Basset-Seguin N, Saiag P, Cambien F, Grandchamp B, Peris K, Soufir N. EDNRB gene variants and melanoma risk in two southern European populations. Clin Exp Dermatol. 2011 Oct;36(7):782-7. doi: 10.1111/j.1365-2230.2011.04062.x. Epub 2011 Apr 20.
- Thirumaran RK, Thoelke A, Ugurel S, Hemminki K, Schadendorf D, Kumar R. Re: Association between endothelin receptor B nonsynonymous variants and melanoma risk. J Natl Cancer Inst. 2006 Sep 6;98(17):1252-3; author reply 1253. doi: 10.1093/jnci/djj336. No abstract available.
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